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NM_000053.4(ATP7B):c.2865+1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Oct 12, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000157942.3
Variation ID:
157942
Description:
single nucleotide variant
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NM_000053.4(ATP7B):c.2865+1G>A

Allele ID
167789
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51949661 (GRCh38) GRCh38 UCSC
13: 52523797 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52523797C>T
NC_000013.11:g.51949661C>T
NG_008806.1:g.66834G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:51949660:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA271173
dbSNP: rs587783306
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV000145266.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP7B - - GRCh38
GRCh37
1325 1389

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
Wilson disease
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000192333.1
Submitted: (Sep 11, 2014)
Evidence details
Likely pathogenic
(Nov 19, 2015)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: unknown
Counsyl
Accession: SCV000485317.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (3)
Pathogenic
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001977298.1
Submitted: (Oct 12, 2021)
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
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. Aggarwal A Annals of human genetics 2013 PMID: 23551039
Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. Bost M Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) 2012 PMID: 22677543
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Vrabelova S Molecular genetics and metabolism 2005 PMID: 15967699

Text-mined citations for rs587783306...

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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 Nov 27, 2021