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NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 29, 2015)
Last evaluated:
Mar 1, 2008
Accession:
VCV000045263.1
Variation ID:
45263
Description:
6bp insertion
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NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis)

Allele ID
54430
Variant type
Insertion
Variant length
6 bp
Cytogenetic location
7p11.2
Genomic location
7: 55181324-55181325 (GRCh38) GRCh38 UCSC
7: 55249022-55249023 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001346897.2:c.2185_2186insGCCACG NP_001333826.1:p.Val729_Cys730insGlyHis
NM_001346898.2:c.2320_2321insGCCACG NP_001333827.1:p.Val774_Cys775insGlyHis
NM_001346899.1:c.2185_2186insGCCACG NP_001333828.1:p.Val729_Cys730insGlyHis
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:55181324:CCACG:CCACGGCCACG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135872
dbSNP: rs1554350366
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 no assertion criteria provided Mar 1, 2008 RCV000038419.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGFR - - GRCh38
GRCh37
1191 1315
EGFR-AS1 - - - GRCh38 - 107

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 01, 2008)
no assertion criteria provided
Method: clinical testing
Non-Small Cell Lung Cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062091.2
Submitted: (Jan 29, 2015)
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
Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants. Greulich H PLoS medicine 2005 PMID: 16187797

Text-mined citations for rs1554350366...

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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