Variants in ABCD1

April 6th, 2017 |

Variants in the ABCD1 gene

Most of the variants presented on this page come from the Exome Aggregation Consortium (ExAC), which is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The total data set spans >60,000 unrelated individuals sequenced as part of various disease-specific and population genetic studies. This work has also identified variants in the ABCD1 gene, which are listed in the table below.

Caution: experimental proof demonstrating that these variants are “non-pathogenic (benign)” is lacking for many. If there is additional experimental or biochemical proof, a reference to the publication or communication is given. If no experimental or biochemical data is available, the variant is classified as a “variant of unknown significance” (VUS).

Chr. Position Exon Variant Consequence Alleles Freq ExAC Reference Remark
152990663 5’UTR c.-59C>T 11/150 7.3% Non-pathogenic, based on identification in 11/150 control alleles 48
152990702 5’UTR c.-20C>T 14/1825 0.767% X:152990702 C/T VUS
152990759 1 c.38A>C p.Asn13Thr 4/3500 0.114% X:152990759 A/C Non-pathogenic, confirmed by biochemical testing 48
152990761 1 c.40A>G p.Thr14Ala 1/3543 0.028% X:152990761 A/G VUS
152990762 1 c.41C>G p.Thr14Arg 1/3559 0.028% X:152990762 C/G VUS
152990771 1 c.50G>A p.Arg17His unique unique Non-pathogenic, confirmed by biochemical testing 139
152990776 1 c.55G>T p.Ala19Ser unique unique Non-pathogenic, confirmed by biochemical testing 104
152990811 1 c.90C>T p.His30His 1/4309 0.023% X:152990811 C/T Synonymous
152990821 1 c.100C>T p.Pro34Ser 1/4306 0.023% X:152990821 C/T VUS
152990829 1 c.108G>A p.Val36Val 1/4245 0.024% X:152990829 G/A Synonymous
152990868 1 c.147C>T p.Pro49Pro 1/4935 0.020% X:152990868 C/T Synonymous
152990892 1 c.171C>G p.Ala57Ala 1/7022 0.014% X:152990892 C/G Synonymous
152990894 1 c.173C>T p.Ser58Phe 1/7132 0.014% X:152990894 C/T VUS
152990902 1 c.181G>A p.Ala61Thr 3/8122 0.037% X:152990902 G/A VUS
152990907 1 c.186G>A p.Ala62Ala 1/8991 0.011% X:152990907 G/A Synonymous
152990946 1 c.225C>T p.Leu75Leu 2/14679 0.014% X:152990946 C/T Synonymous
152990952 1 c.231G>T p.Trp77Cys 1/14759 0.007% X:152990952 G/T VUS
152990970 1 c.249C>T p.Phe83Phe 15/16836 0.089% X:152990970 C/T Synonymous
152990975 1 c.254G>T p.Arg85Leu 1/19063 0.005% X:152990975 G/T VUS
152990977 1 c.256G>A p.Val86Ile 1/20547 0.005% X:152990977 G/A VUS
152990979 1 c.258C>T p.Val86Val 58/21399 0.271% X:152990979 C/T Synonymous
152990986 1 c.265C>T p.Arg89Trp 2/24151 0.008% X:152990986 C/T VUS
152990995 1 c.274G>A p.Gly92Arg 2/28280 0.007% X:152990995 G/A VUS
152990996 1 c.275G>T p.Gly92Val 1/28674 0.003% X:152990996 G/T VUS
152991011 1 c.290A>T p.His97Leu unique unique Non-pathogenic, confirmed by biochemical testing 109
152991015 1 c.294G>T p.Ser98Ser 1/34995 0.003% X:152991015 G/T Synonymous
152991021 1 c.300C>G p.Ala100Ala 1/37556 0.003% X:152991021 C/G Synonymous
152991042 1 c.321G>A p.Leu107Leu 2/44701 0.004% X:152991042 G/A Synonymous
152991047 1 c.326T>C p.Val109Ala 1/46459 0.002% X:152991047 T/C VUS
152991076 1 c.355G>T p.Ala119Ser 2/55276 0.004% X:152991076 G/T VUS
152991079 1 c.358C>G p.Arg120Gly 1/56293 0.002% X:152991079 C/G VUS
152991080 1 c.359G>A p.Arg120His 1/56749 0.002% X:152991080 G/A VUS
152991102 1 c.381G>A p.Pro127Pro 1/64562 0.002% X:152991102 G/A Synonymous
152991103 1 c.382C>T p.Arg128Trp 1/64997 0.002% X:152991103 C/T VUS
152991104 1 c.383G>C p.Arg128Pro 3/65504 0.005% X:152991104 G/C VUS
152991113 1 c.392G>T p.Gly131Val 10/66881 0.015% X:152991113 G/T VUS
152991135 1 c.414C>T p.Leu138Leu 2/70625 0.003% X:152991135 C/T Synonymous
152991141 1 c.420C>A p.Ile140Ile 9/71670 0.013% X:152991141 C/A Synonymous
152991147 1 c.426C>T p.Leu142Leu 1/73699 0.001% X:152991147 C/T Synonymous
152991156 1 c.435C>G p.Thr145Thr 1/75851 0.001% X:152991156 C/G Synonymous
152991157 1 c.436T>A p.Phe146Ile 16/76084 0.021% X:152991157 T/A VUS
152991160 1 c.439G>A p.Val147Ile 2/76898 0.003% X:152991160 G/A VUS
152991192 1 c.471A>G p.Gln157Gln 145/83199 0.174% X:152991192 A/G Synonymous
152991193 1 c.472C>G p.Leu158Val 1/83305 0.001% X:152991193 C/G VUS
152991197 1 c.476C>G p.Ala159Gly 3/83704 0.004% X:152991197 C/G VUS
152991198 1 c.477C>T p.Ala159Ala 4/83817 0.005% X:152991198 C/T Synonymous
152991204 1 c.483G>A p.Ser161Ser 1/84253 0.001% X:152991204 G/A Synonymous
152991219 1 c.498G>T p.Leu166Leu 1/85233 0.001% X:152991219 G/T Synonymous
152991225 1 c.504C>G p.Ala168Ala 2/85415 0.002% X:152991225 C/G Synonymous
152991228 1 c.507C>T p.His169His 4/85529 0.005% X:152991228 C/T Synonymous
152991229 1 c.508G>A p.Ala170Thr 1/85539 0.001% X:152991229 G/A Reported in ALD male 33 as pathogenic
152991232 1 c.511T>C p.Tyr171His 1/85713 0.001% X:152991232 T/C VUS
152991235 1 c.514C>T p.Arg172Cys 1/86012 0.001% X:152991235 C/T VUS
152991236 1 c.515G>A p.Arg172His 2/86068 0.002% X:152991236 G/A VUS
152991258 1 c.537C>T p.Thr179Thr 1/86570 0.001% X:152991258 C/T Synonymous
152991259 1 c.538T>C p.Tyr180His 1/86584 0.001% X:152991259 T/C VUS
152991276 1 c.555C>A p.Asn185Lys 1/86754 0.001% X:152991276 C/A VUS
152991282 1 c.561C>T p.Asp187Asp 2/86762 0.002% X:152991282 C/T Synonymous
152991283 1 c.562G>A p.Gly188Arg 1/86773 0.001% X:152991283 G/A VUS
152991315 1 c.594G>A p.Thr198Thr 1/86823 0.001% X:152991315 G/A Synonymous
152991321 1 c.600C>T p.Asp200Asp 2/86792 0.002% X:152991321 C/T Synonymous
152991322 1 c.601G>A p.Val201Met 16/86769 0.018% X:152991322 G/A VUS
152991335 1 c.614C>T p.Ala205Val 1/86576 0.001% X:152991335 C/T VUS
152991336 1 c.615G>A p.Ala205Ala 30/86563 0.035% X:152991336 G/A Synonymous
152991354 1 c.633C>A p.Leu211Leu 1/86262 0.001% X:152991354 C/A Synonymous
152991381 1 c.660G>A p.Leu220Leu 1/86278 0.001% X:152991381 G/A Synonymous
152991385 1 c.664G>A p.Val222Met 1/86247 0.001% X:152991385 G/A VUS
152991395 1 c.674C>T p.Thr225Ile 1/86039 0.001% X:152991395 C/T VUS
152991412 1 c.691C>T p.Arg231Trp 21/84775 0.025% X:152991412 C/T Reported in an ALD male 32 as pathogenic, but considering its frequency this may not be a pathogenic variant.
152991413 1 c.692G>A p.Arg231Gln 1/84757 0.001% X:152991413 G/A VUS
152991417 1 c.696G>T p.Ala232Ala 137/84553 0.162% X:152991417 G/T Synonymous
152991422 1 c.701G>A p.Arg234His 2/83864 0.002% X:152991422 G/A VUS
152991428 1 c.707G>A p.Arg236His 92/83123 0.111% X:152991428 G/A Considering its frequency it is a polymorphism.
152991431 1 c.710G>T p.Gly237Val 1/82850 0.001% X:152991431 G/T VUS
152991433 1 c.712G>A p.Ala238Thr 1/82292 0.001% X:152991433 G/A VUS
152991435 1 c.714C>T p.Ala238Ala 1/82249 0.001% X:152991435 C/T Synonymous
152991453 1 c.732G>A p.Ser244Ser 2/75970 0.003% X:152991453 G/A Synonymous
152991456 1 c.735C>T p.Ala245Ala 1/75965 0.001% X:152991456 C/T Synonymous
152991460 1 c.739G>A p.Ala247Thr 1/74201 0.001% X:152991460 G/A VUS
152991463 1 c.742G>A p.Gly248Ser 3/73244 0.004% X:152991463 G/A VUS
152991471 1 c.750G>A p.Val250Val 1/70833 0.001% X:152991471 G/A Synonymous
152991478 1 c.757C>G p.Leu253Val 91/67144 0.136% X:152991478 C/G Considering its frequency it is a polymorphism.
152991484 1 c.763G>A p.Ala255Thr 1/63122 0.002% X:152991484 G/A VUS
152991489 1 c.768C>T p.Asn256Asn 4/59250 0.007% X:152991489 C/T Synonymous
152991493 1 c.772C>T p.Leu258Leu 3/57035 0.005% X:152991493 C/T Synonymous
152991497 1 c.776G>A p.Arg259Gln 1/53174 0.002% X:152991497 G/A VUS
152991530 1 c.809C>T p.Ala270Val 3/37787 0.008% X:152991530 C/T VUS
152991540 1 c.819G>A p.Ala273Ala 1/31208 0.003% X:152991540 G/A Synonymous
152991541 1 c.820C>T p.Arg274Trp 2/31066 0.006% X:152991541 C/T VUS
152991542 1 c.821G>A p.Arg274Gln 2/29712 0.007% X:152991542 G/A VUS
152991544 1 c.823C>T p.Arg275Trp 1/29102 0.003% X:152991544 C/T VUS
152991553 1 c.832G>A p.Glu278Lys 1/26063 0.004% X:152991553 G/A VUS
152991558 1 c.837G>A p.Leu279Leu 1/24495 0.004% X:152991558 G/A Synonymous
152991580 1 c.859G>T p.Val287Leu 1/20007 0.005% X:152991580 G/T VUS
152991616 1 c.895C>T p.His299Tyr 4/12268 0.033% X:152991616 C/T VUS
152991633 IVS 1 c.900+12T>A 1/8872 0.011% X:152991633 T/A VUS
152991648 IVS 1 c.900+27G>A 1/6074 0.016% X:152991648 G/A VUS
152991651 IVS 1 c.900+30G>A 2/5921 0.034% X:152991651 G/A VUS
152994663 IVS 1 c.901-24C>T 1/86141 0.001% X:152994663 C/T VUS
152994665 IVS 1 c.901-22C>T 5/86184 0.006% X:152994665 T/C VUS
152994669 IVS 1 c.901-18G>A 1/86300 0.001% X:152994669 G/A VUS
152994671 IVS 1 c.901-16C>T 668/86331 0.774% X:152994671 C/T Considering its frequency it is a polymorphism.
152994677 IVS 1 c.901-10C>T 356/86393 0.412% X:152994677 C/T Considering its frequency it is a polymorphism.
152994678 IVS 1 c.901-9C>A 1/86617 0.001% X:152994678 C/A VUS
152994682 IVS 1 c.901-5C>T 7/86751 0.008% X:152994682 C/T VUS
152994683 IVS 1 c.901-4G>A 2/86798 0.002% X:152994683 G/A VUS
152994692 2 c.906G>A p.Glu302Glu 1/87039 0.001% X:152994692 G/A Synonymous
152994707 2 c.921G>A p.Gln307Gln 1/87267 0.001% X:152994707 G/A Synonymous
152994708 2 c.922C>T p.Arg308Cys 1/87276 0.001% X:152994708 C/T VUS
152994709 2 c.923G>A p.Arg308His 4/87290 0.005% X:152994709 G/A VUS
152994722 2 c.936C>G p.Asp312Glu 1/87430 0.001% X:152994722 C/G VUS
152994730 2 c.944C>T p.Ser315Leu 3/87486 0.003% X:152994730 C/T VUS
152994731 2 c.945G>A p.Ser315Ser 10/87493 0.011% X:152994731 G/A Synonymous
152994750 2 c.964C>A p.Leu322Met 1/87586 0.001% X:152994750 C/A VUS
152994754 2 c.968A>T p.Glu323Val 1/87586 0.001% X:152994754 A/T VUS
152994757 2 c.971G>A p.Arg324His 1/87597 0.001% X:152994757 G/A VUS
152994800 2 c.1014G>A p.Val338Val 2/87602 0.002% X:152994800 G/A Synonymous
152994806 2 c.1020C>T p.Ser340Ser 1/87586 0.001% X:152994806 C/T Synonymous
152994807 2 c.1021G>A p.Ala341Thr 1/87587 0.001% X:152994807 G/A VUS
152994854 2 c.1068C>T p.Gly356Gly 1/87015 0.001% X:152994854 C/T Synonymous
152994858 2 c.1072T>C p.Ser358Pro 1/86834 0.001% X:152994858 T/C Non-pathogenic, confirmed by biochemical testing 139
152994875 IVS 2 c.1081+8C>T 1/85044 0.001% X:152994875 C/T VUS
153001533 IVS 2 c.1082-33C>T 1/69254 0.001% X:153001533 C/T VUS
153001534 IVS 2 c.1082-32>delC 20/69827 0.029% X:153001534 GC/G Considering its frequency it is a polymorphism.
153001535 IVS 2 c.1082-31C>T 1/70774 0.001% X:153001535 C/T VUS
153001539 IVS 2 c.1082-27G>A 2/73225 0.003% X:153001539 G/A VUS
153001546 IVS 2 c.1082-20A>G 1/77785 0.001% X:153001546 A/G VUS
153001547 IVS 2 c.1082-19C>G 44/78278 0.056% X:153001547 C/G Considering its frequency it is a polymorphism.
153001551 IVS 2 c.1082-15T>C 2/79659 0.003% X:153001551 T/C VUS
153001567 3 c.1083T>A p.Asp361Glu 1/84099 0.001% X:153001567 T/A VUS
153001576 3 c.1092C>T p.Ala364Ala 1/85088 0.001% X:153001576 C/T Synonymous
153001577 3 c.1093G>A p.Val365Met 4/85262 0.005% X:153001577 G/A VUS
153001601 3 c.1117A>G p.Lys373Glu 8/86591 0.009% X:153001601 A/G VUS
153001603 3 c.1119G>C p.Lys373Asn 1/86674 0.001% X:153001603 G/C VUS
153001604 3 c.1120G>A p.Glu374Lys 1/86708 0.001% X:153001604 G/A VUS
153001609 3 c.1125G>A p.Glu375Glu 5/86858 0.006% X:153001609 G/A Synonymous
153001618 3 c.1134G>A p.Val378Val 3/87026 0.003% X:153001618 G/A Synonymous
153001622 3 c.1138G>A p.Glu380Lys 1/87052 0.001% X:153001622 G/A VUS
153001625 3 c.1141C>T p.Arg381Cys 2/87093 0.002% X:153001625 C/T VUS
153001626 3 c.1142G>A p.Arg381His 1/87110 0.001% X:153001626 G/A VUS
153001634 3 c.1150G>A p.Ala384Thr 1/87208 0.001% X:153001634 G/A VUS
153001635 3 c.1151C>G p.Ala384Gly 1/87211 0.001% X:153001635 C/G VUS
153001636 3 c.1152C>T p.Ala384Ala 3/87223 0.003% X:153001636 C/T Synonymous
153001663 3 c.1179A>C p.Thr393Thr 1/87310 0.001% X:153001663 A/C Synonymous
153001666 3 c.1182G>A p.Ala394Ala 1/87309 0.001% X:153001666 G/A Synonymous
153001674 3 c.1190A>G p.Asp397Gly 1/87326 0.001% X:153001674 A/G VUS
153001681 3 c.1197T>C p.Ile399Ile 2/87343 0.002% X:153001681 T/C Synonymous
153001685 3 c.1201C>A p.Arg401Arg 1/87359 0.001% X:153001685 C/A Synonymous
153001696 3 c.1212G>A p.Ser404Ser 2/87347 0.002% X:153001696 G/A Synonymous
153001699 3 c.1215G>A p.Ser405Ser 10/87336 0.011% X:153001699 G/A Synonymous
153001713 IVS 3 c.1224+5C>T 1/87309 0.001% X:153001713 C/T VUS
153001773 IVS 3 c.1225-26G>T 10/86972 0.012% X:153001773 G/T VUS
153001790 IVS 3 c.1225-9C>T 1/86992 0.001% X:153001790 C/T VUS
153001802 4 c.1228A>T p.Thr410Ser 4/86981 0.005% X:153001802 A/T VUS
153001803 4 c.1229C>T p.Thr410Met 3/86979 0.003% X:153001803 C/T VUS
153001804 4 c.1230G>A p.Thr410Thr 1/86970 0.001% X:153001804 G/A Synonymous
153001813 4 c.1239T>C p.Ala413Ala 1/86976 0.001% X:153001813 T/C Synonymous
153001819 4 c.1245C>T p.Tyr415Tyr 12/86966 0.014% X:153001819 C/T Synonymous
153001829 4 c.1255G>A p.Val419Met 1/86952 0.001% X:153001829 G/A VUS
153001834 4 c.1260C>A p.His420Gln 1/86927 0.001% X:153001834 C/A VUS
153001847 4 c.1273G>A p.Val425Ile 1/86889 0.001% X:153001847 G/A VUS
153001865 4 c.1291C>T p.Arg431Cys 1/86790 0.001% X:153001865 C/T VUS
153001866 4 c.1292G>A p.Arg431His 1/86776 0.001% X:153001866 G/A VUS
153001869 4 c.1295G>A p.Cys432Tyr 1/86748 0.001% X:153001869 G/A VUS
153001873 4 c.1299C>T p.His433His 1/86711 0.001% X:153001873 C/T Synonymous
153001891 4 c.1317G>A p.Glu439Glu 1/86422 0.001% X:153001891 G/A Synonymous
153001900 4 c.1326C>T p.Asp442Asp 5/86213 0.006% X:153001900 C/T Synonymous
153001901 4 c.1327G>A p.Ala443Thr 2/86136 0.002% X:153001901 G/A VUS
153001909 4 c.1335G>A p.Ala445Ala 1/85879 0.001% X:153001909 G/A Synonymous
153001921 4 c.1347C>T p.Thr449Thr 1/85172 0.001% X:153001921 C/T Synonymous
153001928 4 c.1354C>T p.Arg452Trp 28/84636 0.033% X:153001928 C/T Considering its frequency it is a polymorphism.
153001929 4 c.1355G>A p.Arg452Gln 2/84544 0.002% X:153001929 G/A VUS
153001940 4 c.1366C>T p.Arg456Cys 1/83054 0.001% X:153001940 C/T VUS
153001941 4 c.1367G>A p.Arg456His 5/82923 0.006% X:153001941 G/A VUS
153001943 4 c.1369G>C p.Val457Leu 1/82712 0.001% X:153001943 G/C VUS
153001961 4 c.1387A>T p.Ile463Phe 1/78472 0.001% X:153001961 A/T VUS
153001965 4 c.1391G>A p.Arg464Gln 4/77317 0.005% X:153001965 G/A VUS
153001981 IVS 4 c.1393+14C>T 1/70197 0.001% X:153001981 C/T VUS
153001985 IVS 4 c.1393+18C>G 9/67570 0.013% X:153001985 C/G VUS
153001998 IVS 4 c.1393+31C>T 484/59181 0.818% X:153001998 C/T Considering its frequency it is a polymorphism.
153001999 IVS 4 c.1393+32G>A 5/58510 0.009% X:153001999 G/A VUS
153002581 IVS 4 c.1394-30C>T 1/77743 0.001% X:153002581 C/T VUS
153002592 IVS 4 c.1394-19C>T 2/80672 0.002% X:153002592 C/T VUS
153002593 IVS 4 c.1394-18G>A 2/81088 0.002% X:153002593 G/A VUS
153002606 IVS 4 c.1394-5T>C 1/83573 0.001% X:153002606 T/C VUS
153002616 5 c.1399G>A p.Val467Met 1/84395 0.001% X:153002616 G/A VUS
153002621 5 c.1404G>A p.Val468Val 1/84645 0.001% X:153002621 G/A Synonymous
153002630 5 c.1413A>G p.Glu471Glu 2/84924 0.002% X:153002630 A/G Synonymous
153002645 5 c.1428C>T p.Cys476Cys 1/85080 0.001% X:153002645 C/T Synonymous
153002646 5 c.1429G>A p.Glu477Lys 2/85098 0.002% X:153002646 G/A VUS
153002660 5 c.1443C>T p.Ile481Ile 5/84568 0.006% X:153002660 C/T Synonymous
153002661 5 c.1444G>A p.Val482Ile 6/84499 0.007% X:153002661 G/A VUS
153002669 5 c.1452C>G p.Pro484Pro 6/84001 0.007% X:153002669 C/G Synonymous
153002672 5 c.1455A>C p.Ser485Ser 5/83681 0.006% X:153002672 A/C Synonymous
153002684 5 c.1467G>A p.Val489Val 2/82757 0.002% X:153002684 G/A Synonymous
153002704 5 c.1487G>C p.Arg496Thr 1/80354 0.001% X:153002704 G/C VUS
153002721 IVS 5 c.1488+16A>G 1/62847 0.002% X:153002721 A/G VUS
153002725 IVS 5 c.1488+20C>G 2/63201 0.003% X:153002725 C/G VUS
153002728 IVS 5 c.1488+23C>T 6/60823 0.010% X:153002728 C/T VUS
153002734 IVS 5 c.1488+29C>T 2/56746 0.004% X:153002734 C/T VUS
153002735 IVS 5 c.1488+30G>A 1/55550 0.002% X:153002735 G/A VUS
153005512 IVS 5 c.1489-34C>T 6/85327 0.007% X:153005512 C/T VUS
153005513 IVS 5 c.1489-33G>A 1/85362 0.001% X:153005513 G/A VUS
153005515 IVS 5 c.1489-31T>C 2/85391 0.002% X:153005515 T/C VUS
153005522 IVS 5 c.1489-24C>G 482/85296 0.565% X:153005522 C/G Considering its frequency it is a polymorphism.
153005523 IVS 5 c.1489-23G>A 6/84906 0.007% X:153005523 G/A VUS
153005529 IVS 5 c.1489-17G>C 1/85205 0.001% X:153005529 G/C VUS
153005532 IVS 5 c.1489-14T>C 1/85076 0.001% X:153005532 T/C VUS
153005533 IVS 5 c.1489-13G>T 1/85215 0.001% X:153005533 G/T VUS
153005536 IVS 5 c.1489-10delC (same as c.1489-6delC) 632/85532, (599/6600) 0.739% X:153005536 GC/G East-Asian specific, non-pathogenic, 68
153005537 IVS 5 c.1489-9C>T 2/84445 0.002% X:153005537 C/T VUS
153005540 IVS 5 c.1489-6delC 599/6600 9.0% X:153005536 GC/G East-Asian specific, non-pathogenic, 68
153005578 6 c.1521C>T p.Gly507Gly 1/86349 0.001% X:153005578 C/T Synonymous
153005583 6 c.1526A>G p.Asn509Ser 1/86436 0.001% X:153005583 A/G VUS
153005590 6 c.1533C>T p.Cys511Cys 2/86473 0.002% X:153005590 C/T Synonymous
153005593 6 c.1536C>G p.Gly512Gly 1/86536 0.001% X:153005593 C/G Synonymous
153005604 6 c.1548G>A p.Leu516Leu 8600/86726 9.916% X:153005605 G/A Synonymous
153005608 6 c.1551C>T p.Phe517Phe 1/86749 0.001% X:153005608 C/T Synonymous
153005638 6 c.1581C>T p.Tyr527Tyr 22/86959 0.025% X:153005638 C/T Synonymous
153005639 6 c.1582G>A p.Gly528Ser 4/86985 0.005% X:153005639 G/A Non-pathogenic, confirmed by biochemical testing 144
153005654 6 c.1597A>C p.Lys533Gln 1/87158 0.001% X:153005654 A/C VUS
153005668 6 c.1611G>C p.Gln537His 1/87299 0.001% X:153005668 G/C VUS
153005669 6 c.1612C>T p.Arg538Cys 1/87303 0.001% X:153005669 C/T VUS
153005670 6 c.1613G>A p.Arg538His 1/87306 0.001% X:153005670 G/A VUS
153005672 6 c.1615A>C p.Met539Leu 2/87303 0.002% X:153005672 A/C VUS
153005677 6 c.1620C>T p.Phe540Phe 2/87311 0.002% X:153005677 C/T Synonymous
153005686 6 c.1629G>A p.Pro543Pro 1/87293 0.001% X:153005686 G/A Synonymous
153005695 IVS 6 c.1634+4A>G 1/87241 0.001% X:153005695 A/G VUS
153005696 IVS 6 c.1634+5G>C 1/87224 0.001% X:153005696 G/C VUS
153005703 IVS 6 c.1634+12C>T 45/87170 0.052% X:153005703 C/T Considering its frequency it is a polymorphism.
153005704 IVS 6 c.1634+13G>A 5/87158 0.006% X:153005704 G/A VUS
153005705 IVS 6 c.1634+14T>C 1/87150 0.001% X:153005705 T/C VUS
153005707 IVS 6 c.1634+16C>T 1/87127 0.001% X:153005707 C/T VUS
153005708 IVS 6 c.1634+17G>A 1/87118 0.001% X:153005708 G/A VUS
153005715 IVS 6 c.1634+24C>T 3/87046 0.003% X:153005715 C/T VUS
153005717 IVS 6 c.1634+26C>T 3/87004 0.003% X:153005717 C/T VUS
153006004 IVS 6 c.1635-24C>A 7/86477 0.008% X:153006004 C/A VUS
153006005 IVS 6 c.1635-23G>A 2/86540 0.002% X:153006005 G/A VUS
153006022 IVS 6 c.1635-6C>T 1/86815 0.001% X:153006022 C/T VUS
153006046 7 c.1653C>T p.Gly551Gly 1/87107 0.001% X:153006046 C/T Synonymous
153006053 7 c.1660C>T p.Arg554Cys 1/87157 0.001% X:153006053 C/T VUS
153006073 7 c.1680G>A p.Pro560Pro 2/87301 0.002% X:153006073 G/A Synonymous
153006108 7 c.1715C>T p.Ser572Leu 1/87364 0.001% X:153006108 C/T VUS
153006125 7 c.1732G>A p.Ala578Thr 6/87294 0.007% X:153006125 G/A VUS
153006127 7 c.1734C>G p.Ala578Ala 1/87289 0.001% X:153006127 C/G Synonymous
153006136 7 c.1743C>T p.Asp581Asp 1/87237 0.001% X:153006136 C/T Synonymous
153006137 7 c.1744G>A p.Val582Ile 2122/81726 2.596% X:153006137 G/A Considering its frequency it is a polymorphism.
153006141 7 c.1748T>A p.Val583Glu 2132/81068 2.630% X:153006141 T/A Considering its frequency it is a polymorphism.
153006162 7 c.1769A>T p.Gln590Leu 2/86495 0.002% X:153006162 A/T VUS
153006177 IVS 7 c.1780+4G>A 26/86033 0.030% X:153006177 G/A Considering its frequency it is a polymorphism.
153006199 IVS 7 c.1780+26C>T 2/85187 0.002% X:153006199 C/T VUS
153006200 IVS 7 c.1780+27C>G 92/85192 0.108% X:153006200 C/G Considering its frequency it is a polymorphism.
153006201 IVS 7 c.1780+28C>T 1/85099 0.001% X:153006201 C/T VUS
153008425 IVS 7 c.1781-16C>A 1/21731 0.005% X:153008425 C/A VUS
153008436 IVS 7 c.1781-5C>G 2/27013 0.007% X:153008436 C/G VUS
153008450 8 c.1790C>G p.Ala597Gly 1/32338 0.003% X:153008450 C/G Reported in ALD male 58 as pathogenic
153008452 8 c.1792A>G p.Met598Val 2/33097 0.006% X:153008452 A/G VUS
153008454 8 c.1794G>T p.Met598Ile 2/33734 0.006% X:153008454 G/T VUS
153008470 8 c.1810G>A p.Val604Ile 42/38499 0.109% X:153008470 G/A Considering its frequency it is a polymorphism.
153008475 8 c.1815G>C p.Leu605Leu 1/39210 0.003% X:153008475 G/C Synonymous
153008478 8 c.1818G>A p.Ser606Ser 16/44858 0.036% X:153008478 G/A Synonymous
153008483 8 c.1823G>A p.Gly608Asp 306/36626 0.836% X:153008483 G/A Reported in ALD male 48 as pathogenic, but considering its frequency this may not be a pathogenic variant.
153008499 8 c.1839C>T p.Ile613Ile 2/40018 0.005% X:153008499 C/T Synonymous
153008500 8 c.1840G>A p.Gly614Ser 3/40046 0.007% X:153008500 G/A VUS
153008533 IVS 8 c.1865+8C>T 1/31962 0.003% X:153008533 C/T VUS
153008536 IVS 8 c.1865+11C>T 5/30791 0.016% X:153008536 C/T VUS
153008541 IVS 8 c.1865+16C>T 8/29488 0.027% X:153008541 C/T VUS
153008559 IVS 8 c.1865+34C>T 32/26984 0.119% X:153008559 C/T Considering its frequency it is a polymorphism.
153008670 IVS 8 c.1866-5C>T 1/55492 0.002% X:153008670 C/T VUS
153008679 9 c.1870A>G p.Lys624Glu 2/57577 0.003% X:153008679 A/G VUS
153008690 9 c.1881C>T p.Leu627Leu 1/59432 0.002% X:153008690 C/T Synonymous
153008708 9 c.1899C>T p.Ser633Ser 18/58930 0.031% X:153008708 C/T Synonymous
153008709 9 c.1900G>T p.Ala634Ser 1/58915 0.002% X:153008709 G/T VUS
153008711 9 c.1902C>T p.Ala634Ala 33/58334 0.057% X:153008711 C/T Synonymous
153008718 9 c.1909A>G p.Ile637Val 1/56905 0.002% X:153008718 A/G VUS
153008720 9 c.1911C>T p.Ile637Ile 1/56497 0.002% X:153008720 C/T Synonymous
153008723 9 c.1914C>T p.Asp638Asp 7/55538 0.013% X:153008723 C/T Synonymous
153008724 9 c.1915G>A p.Val639Met 2/55311 0.004% X:153008724 G/A VUS
153008759 9 c.1950G>A p.Ala650Ala 2/38983 0.005% X:153008759 G/A Synonymous
153008805 IVS 9 c.1991+5G>T 1/28791 0.003% X:153008805 G/T VUS
153008807 IVS 9 c.1991+7G>A 1/28563 0.004% X:153008807 G/A VUS
153008826 IVS 9 c.1991+26G>T 1/26552 0.004% X:153008826 G/T VUS
153008829 IVS 9 c.1991+29C>G 1/26199 0.004% X:153008829 C/G VUS
153008830 IVS 9 c.1991+30G>A 1/25970 0.004% X:153008830 G/A VUS
153008911 IVS 9 c.1992-32C>T 37531/57703 65.040% X:153008911 C/T Considering its frequency it is a polymorphism.
153008912 IVS 9 c.1992-31G>A 2/55329 0.004% X:153008912 G/A VUS
153008914 IVS 9 c.1992-29insC 4/55372 0.007% X:153008914 G/GC VUS
153008918 IVS 9 c.1992-25C>A 7/55417 0.013% X:153008918 C/A VUS
153008922 IVS 9 c.1992-21C>T 4/55434 0.007% X:153008922 C/T VUS
153008928 IVS 9 c.1992-15C>T 1/55730 0.002% X:153008928 C/T VUS
153008970 10 c.2019C>T p.Phe673Phe 794/54257 1.463% X:153008970 C/T Synonymous
153008982 10 c.2031C>T p.Gly677Gly 2/51781 0.004% X:153008982 C/T Synonymous
153008983 10 c.2032G>A p.Gly678Ser 2/51823 0.004% X:153008983 G/A VUS
153008984 10 c.2033G>A p.Gly678Asp 3/50878 0.006% X:153008984 G/A VUS
153008994 10 c.2043C>T p.Phe681Phe 33/49270 0.067% X:153008994 C/T Synonymous
153008995 10 c.2044G>C p.Glu682Gln 3/48843 0.006% X:153008995 G/C VUS
153009016 10 c.2065C>T p.Arg689Cys 3/43099 0.007% X:153009016 C/T VUS
153009024 10 c.2073C>G p.Ser691Arg 1/41060 0.002% X:153009024 C/G VUS
153009038 10 c.2087A>T p.Lys696Met 2/37550 0.005% X:153009038 A/T VUS
153009041 10 c.2090A>G p.Gln697Arg 1/35143 0.003% X:153009041 A/G VUS
153009062 10 c.2111C>T p.Ala704Val 1/29139 0.003% X:153009062 C/T VUS
153009063 10 c.2112G>A p.Ala704Ala 17/29186 0.058% X:153009063 G/A Synonymous
153009078 10 c.2127G>A p.Met709Ile 1/25622 0.004% X:153009078 G/A VUS
153009082 10 c.2131C>T p.Arg711Trp 1/24534 0.004% X:153009082 C/T VUS
153009109 10 c.2158C>G p.Leu720Val 1/18785 0.005% X:153009109 C/G VUS
153009124 10 c.2173G>A p.Ala725Thr 1/15178 0.007% X:153009124 G/A VUS
153009140 10 c.2189C>T p.Pro730Leu 1/12833 0.008% X:153009140 C/T VUS
153009141 10 c.2190G>A p.Pro730Pro 17/12837 0.132% X:153009141 G/A Synonymous
153009152 10 c.2201C>T p.Pro734Leu 1/11807 0.008% X:153009152 C/T VUS
153009153 10 c.2202G>A p.Pro734Pro 1/11523 0.009% X:153009153 G/A Synonymous
153009173 10 c.2222A>G p.Gln741Arg 1/10931 0.009% X:153009173 A/G VUS
153009176 10 c.2225G>T p.Gly742Val 1/10915 0.009% X:153009176 G/T VUS
153009184 10 c.2233A>C p.Thr745Pro 2/10292 0.019% X:153009184 A/C VUS
153009190 3’UTR c.2238*1C>T 1/10896 0.009% X:153009190 C/T VUS
153009196 3’UTR c.2238*7C>T 2/10886 0.018% X:153009196 C/T VUS
153009197 3’UTR c.2238*8G>C 10535/14639 72% X:153009197 G/C Polymorphism

References

32 Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands. Contact person: Dr. H.R. Waterham (e-mail: h.r.waterham [at_symbol] amc.uva.nl). Unpublished data
33 The Johns Hopkins DNA Diagnostic Lab, Institute of Genetic Medicine, Baltimore, MD, USA. Contact person: Dr. S.J.S. Steinberg (e-mail: S.J.Steinberg [at_symbol] jhmi.edu). Unpublished data
48 Dvorakova et al., (2001) Hum Mutat 18(1):52-60
58 Pitié-Salpétrière Hospital (Biochemistry Department) and Hôpital Saint-Vincent de Paul (Service Pédiatrie C, Inserm U561) Paris, France. Contact persons: Prof. Bernard Hainque (e-mail: bernard.hainque [at_symbol] psl.ap-hop-paris.fr) and Prof. Patrick Aubourg (e-mail: patrick.aubourg [at_symbol] inserm.fr) Unpublished data
68 Chiu HC, et al., (2006) Pediatr Neurol 35(4):250-6
104 Amorosi et al (2012) Plos One
109 Morita et al (2013) JIMD Rep
139 Schackmann et al (2016) Mol Genet Metab (in press)
144 The variant p.Gly528Ser was identified in a whole exome sequencing analysis. Biochemical testing revealed no elevated VLCFA. Personal communication Dr. Vikram Shakkottai, University of Michigan, Ann Arbor, US

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