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NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 24, 2019)
Last evaluated:
Sep 7, 2018
Accession:
VCV000554890.2
Variation ID:
554890
Description:
single nucleotide variant
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NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)

Allele ID
547347
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51957535 (GRCh38) GRCh38 UCSC
13: 52531671 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52531671C>A
NM_001330579.2:c.2176G>T NP_001317508.1:p.Glu726Ter nonsense
NC_000013.11:g.51957535C>A
... more HGVS
Protein change
E810*, E699*, E732*, E648*, E726*
Other names
-
Canonical SPDI
NC_000013.11:51957534:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs770020484
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 7, 2018 RCV000670601.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Nov 08, 2017)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: unknown
Counsyl
Accession: SCV000795473.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Sep 07, 2018)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918602.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: ATP7B c.2428G>T (p.Glu810X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)

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
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

Text-mined citations for rs770020484...

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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