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NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) AND ABCD1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003407363.4

Allele description [Variation Report for NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)]

NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)

Gene:
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
HGVS:
  • NC_000023.11:g.153726104C>T
  • NG_009022.2:g.6237C>T
  • NG_023231.1:g.3643G>A
  • NM_000033.4:c.838C>TMANE SELECT
  • NP_000024.2:p.Arg280Cys
  • LRG_1017t1:c.838C>T
  • LRG_1017:g.6237C>T
  • LRG_1017p1:p.Arg280Cys
  • NC_000023.10:g.152991559C>T
  • NM_000033.3:c.838C>T
  • P33897:p.Arg280Cys
Protein change:
R280C
Links:
UniProtKB: P33897#VAR_013347; dbSNP: rs193922098
NCBI 1000 Genomes Browser:
rs193922098
Molecular consequence:
  • NM_000033.4:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ABCD1-related disorder
Synonyms:
ABCD1-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004113275PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jun 6, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004113275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The ABCD1 c.838C>T variant is predicted to result in the amino acid substitution p.Arg280Cys. This variant has been reported in multiple unrelated individuals with adrenoleukodystrophy (Kemp et al. 2001. PubMed ID: 11748843; Coll et al. 2005. PubMed ID: 15811009; Isaacs et al. 2014. PubMed ID: 29443243). This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-152991559-C-T). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024