NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs) AND Adrenoleukodystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 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:: RCV002837788.3

Allele description [Variation Report for NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)]

NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)

Gene:

ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)

HGVS:

NC_000023.11:g.153736122_153736123insTTTGCAG
NG_009022.2:g.16255_16256insTTTGCAG
NM_000033.4:c.1092_1093insTTTGCAGMANE SELECT
NP_000024.2:p.Val365fs
LRG_1017t1:c.1092_1093insTTTGCAG
LRG_1017:g.16255_16256insTTTGCAG
LRG_1017p1:p.Val365fs
NC_000023.10:g.153001576_153001577insTTTGCAG

Protein change:

V365fs

Molecular consequence:

NM_000033.4:c.1092_1093insTTTGCAG - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

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JGI_CABI5756.fwd NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone IMAGE:7857866 5'...
JGI_CABI5756.fwd NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone IMAGE:7857866 5', mRNA sequence
gi|73788874|gnl|dbEST|31044085|gb|D 77.1|

Nucleotide
JGI_CABI5422.rev NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone IMAGE:7857925 3'...
JGI_CABI5422.rev NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone IMAGE:7857925 3', mRNA sequence
gi|73788276|gnl|dbEST|31043487|gb|D 79.1|

Nucleotide
JGI_CAAR502.fwd NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7733527 5',...
JGI_CAAR502.fwd NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7733527 5', mRNA sequence
gi|58861022|gnl|dbEST|27727619|gb|D 86.1|

Nucleotide
JGI_CABI5425.rev NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone IMAGE:7857687 3'...
JGI_CABI5425.rev NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone IMAGE:7857687 3', mRNA sequence
gi|73788282|gnl|dbEST|31043493|gb|D 85.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003208147	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 27, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11748843, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003208147

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 27, 2023)

germline

clinical testing

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

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

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW.

Hum Mutat. 2001 Dec;18(6):499-515. Review.

PubMed [citation]

PMID:: 11748843

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003208147.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Val365Phefs*38) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2006524). For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

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