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NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) AND Adrenoleukodystrophy

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 10, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001167967.10

Allele description [Variation Report for NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)]

NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)

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.1950G>A (p.Ala650=)
HGVS:
  • NC_000023.11:g.153743305G>A
  • NG_009022.2:g.23438G>A
  • NM_000033.4:c.1950G>AMANE SELECT
  • NP_000024.2:p.Ala650=
  • LRG_1017t1:c.1950G>A
  • LRG_1017:g.23438G>A
  • LRG_1017p1:p.Ala650=
  • NC_000023.10:g.153008759G>A
  • NC_000023.10:g.153008759G>A
  • NM_000033.3:c.1950G>A
Links:
dbSNP: rs74315281
NCBI 1000 Genomes Browser:
rs74315281
Molecular consequence:
  • NM_000033.4:c.1950G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Adrenoleukodystrophy (ALD)
Synonyms:
ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018544; MedGen: C0162309; OMIM: 300100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001330519Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Likely benign
(Oct 10, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002460953Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Apr 10, 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

Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.

Shukla P, Gupta N, Gulati S, Ghosh M, Vasisht S, Sharma R, Gupta AK, Kalra V, Kabra M.

Clin Chim Acta. 2011 Nov 20;412(23-24):2289-95. doi: 10.1016/j.cca.2011.08.026. Epub 2011 Aug 26.

PubMed [citation]
PMID:
21889498

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

Kumar N, Taneja KK, Kalra V, Behari M, Aneja S, Bansal SK.

PLoS One. 2011;6(9):e25094. doi: 10.1371/journal.pone.0025094. Epub 2011 Sep 22.

PubMed [citation]
PMID:
21966424
PMCID:
PMC3178599
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001330519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002460953.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024