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NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
May 15, 2012
Accession:
VCV000013875.1
Variation ID:
13875
Description:
12bp duplication
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NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)

Allele ID
28914
Variant type
Duplication
Variant length
12 bp
Cytogenetic location
17q12
Genomic location
17: 39724728-39724729 (GRCh38) GRCh38 UCSC
17: 37880981-37880982 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.37880984_37880995dup
NC_000017.11:g.39724731_39724742dup
NM_001005862.2:c.2223_2234dup NP_001005862.1:p.Tyr742_Ala745dup
... more HGVS
Protein change
-
Other names
p.Tyr772_Ala775dup
INS/DUP, NT2322
Canonical SPDI
NC_000017.11:39724728:GCATACGTGATGGC:GCATACGTGATGGCATACGTGATGGC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA123573
OMIM: 164870.0003
dbSNP: rs397516975
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 May 15, 2012 RCV000038123.2
Pathogenic 1 no assertion criteria provided Sep 30, 2004 RCV000014889.5
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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
(May 15, 2012)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061789.4
Submitted: (Mar 21, 2019)
Evidence details
Pathogenic
(Sep 30, 2004)
no assertion criteria provided
Method: literature only
ADENOCARCINOMA OF LUNG, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000035144.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Lung cancer: intragenic ERBB2 kinase mutations in tumours. Stephens P Nature 2004 PMID: 15457249

Text-mined citations for rs397516975...

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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