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NM_004448.4(ERBB2):c.2320del (p.Met774fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Nov 10, 2011
Accession:
VCV000044986.1
Variation ID:
44986
Description:
1bp deletion
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NM_004448.4(ERBB2):c.2320del (p.Met774fs)

Allele ID
54153
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 39724738 (GRCh38) GRCh38 UCSC
17: 37880991 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_724:g.41599del
NC_000017.10:g.37880991del
NC_000017.11:g.39724738del
... more HGVS
Protein change
M744fs, M759fs, M774fs, M428fs, M498fs, M688fs, M714fs, M741fs, M758fs, M760fs, M762fs, M771fs, M773fs, M781fs, M784fs, M799fs, M801fs, M808fs, M813fs
Other names
-
Canonical SPDI
NC_000017.11:39724737:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135370
dbSNP: rs397516978
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 Nov 10, 2011 RCV000038125.2
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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
(Nov 10, 2011)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061791.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Met774fs variant has not been previously reported nor previously identified by our laboratory. This variant is predicted to cause a frameshift, which alters the … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs397516978...

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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 Oct 24, 2021