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:: RCV001167967.9

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001330519	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Oct 10, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21889498, 21966424 Citation Link,
SCV002460953	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Apr 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001330519

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Oct 10, 2017)

germline

clinical testing

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

Citation Link,

SCV002460953

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Apr 10, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV002460953.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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