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NM_004448.3(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Mar 6, 2013
Accession:
VCV000044993.1
Variation ID:
44993
Description:
9bp duplication
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NM_004448.3(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup)

Allele ID
54160
Variant type
Duplication
Variant length
9 bp
Cytogenetic location
17q12
Genomic location
17: 39724749-39724750 (GRCh38) GRCh38 UCSC
17: 37881002-37881003 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.37881003_37881011dup
NC_000017.11:g.39724750_39724758dup
NM_001005862.2:c.2242_2250dup NP_001005862.1:p.Gly748_Pro750dup
... more HGVS
Protein change
-
Other names
p.Gly778_Pro780dup
Canonical SPDI
NC_000017.11:39724749:GGCTCCCCA:GGCTCCCCAGGCTCCCCA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135401
dbSNP: rs397516982
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 6, 2013 RCV000038132.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERBB2 - - GRCh38
GRCh37
202 216

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 06, 2013)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061798.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)

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
Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. Arcila ME Clinical cancer research : an official journal of the American Association for Cancer Research 2012 PMID: 22761469
Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Shigematsu H Cancer research 2005 PMID: 15753357
Lung cancer: intragenic ERBB2 kinase mutations in tumours. Stephens P Nature 2004 PMID: 15457249

Text-mined citations for rs397516982...

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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 Jul 07, 2021