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NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Nov 14, 2019)
Last evaluated:
Sep 11, 2019
Accession:
VCV000011314.3
Variation ID:
11314
Description:
3bp microsatellite
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NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)

Allele ID
26353
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
Xq28
Genomic location
X: 153726136-153726138 (GRCh38) GRCh38 UCSC
X: 152991591-152991593 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000033.4:c.874_876delGAG MANE Select
LRG_1017:g.6270GAG[1]
LRG_1017t1:c.871GAG[1] LRG_1017p1:p.Glu292del
... more HGVS
Protein change
E292del
Other names
E291del
Canonical SPDI
NC_000023.11:153726135:GGAGGAG:GGAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278118
OMIM: 300371.0023
dbSNP: rs387906496
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Sep 11, 2019 RCV000012066.11
Likely pathogenic 1 no assertion criteria provided Oct 3, 2017 RCV000675191.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
739 965

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 11, 2019)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001167277.1
Submitted: (Nov 14, 2019)
Evidence details
Pathogenic
(Jun 30, 1998)
no assertion criteria provided
Method: literature only
ADRENOLEUKODYSTROPHY
Allele origin: germline
OMIM
Accession: SCV000032300.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Oct 03, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV000800832.1
Submitted: (May 23, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report. Kano S Journal of the neurological sciences 1998 PMID: 9702690

Text-mined citations for rs387906496...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 02, 2021