NM_000033.4(ABCD1):c.1552del (p.Arg518fs) AND Adrenoleukodystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1994
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000012058.10

Allele description [Variation Report for NM_000033.4(ABCD1):c.1552del (p.Arg518fs)]

NM_000033.4(ABCD1):c.1552del (p.Arg518fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000033.4(ABCD1):c.1552del (p.Arg518fs)

HGVS:

NC_000023.11:g.153740155del
NG_009022.2:g.20288del
NM_000033.4:c.1552delMANE SELECT
NP_000024.2:p.Arg518fs
LRG_1017t1:c.1552del
LRG_1017:g.20288del
LRG_1017p1:p.Arg518fs
NC_000023.10:g.153005609del
NG_009022.1:g.20287del
NM_000033.3:c.1552del
NP_000024.2:p.Arg518fs

Protein change:

R518fs

Links:

OMIM: 300371.0015; dbSNP: rs387906495

NCBI 1000 Genomes Browser:

rs387906495

Molecular consequence:

NM_000033.4:c.1552del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032292	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032292

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1994)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P.

J Clin Invest. 1994 Aug;94(2):516-20.

PubMed [citation]

PMID:: 8040304
PMCID:: PMC296124

Details of each submission

From OMIM, SCV000032292.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Fanen et al. (1994) identified a 1-bp deletion at nucleotide 1937 of the ALD gene, leading to a termination codon at position 557 in exon 6 and a truncated protein. The mutation was detected in the heterozygous mother of a boy who died at age 13 years from cerebral adrenoleukodystrophy (300100).

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

Last Updated: Apr 20, 2024

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