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NM_004448.3(ERBB2):c.2305G>C (p.Asp769His)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
5 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000375991.1
Variation ID:
375991
Description:
single nucleotide variant
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NM_004448.3(ERBB2):c.2305G>C (p.Asp769His)

Allele ID
362870
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 39724008 (GRCh38) GRCh38 UCSC
17: 37880261 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.39724008G>C
NC_000017.10:g.37880261G>C
NM_004448.3:c.2305G>C NP_004439.2:p.Asp769His
... more HGVS
Protein change
D739H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs121913468
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000423455.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426351.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433752.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000444643.1
Pathogenic 1 no assertion criteria provided May 31, 2016 RCV000445220.1
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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
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the breast
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504583.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (4)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Carcinoma of esophagus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504584.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Transitional cell carcinoma of the bladder
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504585.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Uterine cervical neoplasms
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504586.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of stomach
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504587.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...

Citations for this variant

Title Author Journal Year Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
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.2305G>C - - - -

Record last updated Mar 29, 2019