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NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 31, 2019)
Last evaluated:
Jun 10, 2019
Accession:
VCV000665751.2
Variation ID:
665751
Description:
single nucleotide variant
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NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)

Allele ID
649786
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153726158 (GRCh38) GRCh38 UCSC
X: 152991613 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.152991613G>A
NC_000023.11:g.153726158G>A
NM_000033.4:c.892G>A MANE Select NP_000024.2:p.Gly298Ser missense
... more HGVS
Protein change
G298S
Other names
-
Canonical SPDI
NC_000023.11:153726157:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1603232243
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 10, 2019 RCV000824100.2
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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
704 930

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 30, 2018)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Invitae
Accession: SCV000964982.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces glycine with serine at codon 298 of the ABCD1 protein (p.Gly298Ser). The glycine residue is highly conserved and there is a … (more)
Uncertain significance
(Jun 10, 2019)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV000992377.1
Submitted: (Jul 31, 2019)
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
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy. Chu SS World journal of pediatrics : WJP 2015 PMID: 26454440
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Lachtermacher MB Human mutation 2000 PMID: 10737980
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. Wichers M Human genetics 1999 PMID: 10480364

Text-mined citations for rs1603232243...

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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 Feb 27, 2021