NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 10, 2017
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:: RCV002399466.9

Allele description [Variation Report for NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)]

NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)

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.1679C>T (p.Pro560Leu)

HGVS:

NC_000023.11:g.153740618C>T
NG_009022.2:g.20751C>T
NM_000033.4:c.1679C>TMANE SELECT
NP_000024.2:p.Pro560Leu
NP_000024.2:p.Pro560Leu
LRG_1017t1:c.1679C>T
LRG_1017:g.20751C>T
LRG_1017p1:p.Pro560Leu
NC_000023.10:g.153006072C>T
NM_000033.3:c.1679C>T
P33897:p.Pro560Leu

Protein change:

P560L

Links:

UniProtKB: P33897#VAR_000075; dbSNP: rs398123105

NCBI 1000 Genomes Browser:

rs398123105

Molecular consequence:

NM_000033.4:c.1679C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002710978	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 10, 2017)	germline	clinical testing	PubMed (16) [See all records that cite these PMIDs] 10190819, 11748843, 12402273, 20661612, 20800589, 21068741, 21300044, 21700483, 21889498, 22189598, 22479560, 23566833, 23864971, 24719134, 7717396, 8651290 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002710978

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 10, 2017)

germline

clinical testing

PubMed (16)
[See all records that cite these PMIDs]

Citation Link

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

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

Takano H, Koike R, Onodera O, Sasaki R, Tsuji S.

Arch Neurol. 1999 Mar;56(3):295-300.

PubMed [citation]

PMID:: 10190819

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

See all PubMed Citations (16)

Details of each submission

From Ambry Genetics, SCV002710978.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (16)

Description

The p.P560L pathogenic mutation (also known as c.1679C>T), located in coding exon 7 of the ABCD1 gene, results from a C to T substitution at nucleotide position 1679. The proline at codon 560 is replaced by leucine, an amino acid with similar properties. This mutation has been reported in multiple affected males with the childhood cerebral form of X-linked adrenoleukodystrophy and adrenomyeloneuropathy (AMN) (Braun A et al. Am. J. Hum. Genet., 1995 Apr;56:854-61; Feigenbaum V et al. Am. J. Hum. Genet., 1996 Jun;58:1135-44; Shukla P et al. Clin. Chim. Acta, 2011 Nov;412:2289-95; Wang Y et al. Mol. Genet. Metab. Jun;104:160-6; Park HJ et al. Yonsei Med. J., 2014 May;55:676-82; Jack GH et al. Case Rep Neurol Med, 2013 Jun;2013:491790). In addition, adrenoleukodystrophy protein (ALDP) analysis in cells from affected individuals demonstrated a reduced level or absent protein compared to wild type (Feigenbaum V et al. Am. J. Hum. Genet., 1996 Jun;58:1135-44). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#	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: Nov 3, 2024

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