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NM_004448.3(ERBB2):c.2686C>T (p.Arg896Cys)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 18, 2016)
Last evaluated:
Oct 2, 2014
Accession:
VCV000375995.1
Variation ID:
375995
Description:
single nucleotide variant
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NM_004448.3(ERBB2):c.2686C>T (p.Arg896Cys)

Allele ID
362874
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 39725363 (GRCh38) GRCh38 UCSC
17: 37881616 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.39725363C>T
NC_000017.10:g.37881616C>T
NM_001289936.1:c.2641C>T NP_001276865.1:p.Arg881Cys
... more HGVS
Protein change
R866C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs758222990
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000424169.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERBB2 - - GRCh38
GRCh37
78 90

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Neoplasm of the breast
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504604.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/v...

Citations for this variant

Title Author Journal Year Link
Activating HER2 mutations in HER2 gene amplification negative breast cancer. Bose R Cancer discovery 2013 PMID: 23220880
Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. Lee JW Clinical cancer research : an official journal of the American Association for Cancer Research 2006 PMID: 16397024
http://docm.genome.wustl.edu/variants/ENST00000269571:c.2686C>T - - - -

Record last updated Mar 29, 2019