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NM_005228.5(EGFR):c.2317_2322dup (p.His773_Val774dup)

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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:
VCV000045262.1
Variation ID:
45262
Description:
6bp duplication
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NM_005228.5(EGFR):c.2317_2322dup (p.His773_Val774dup)

Allele ID
54429
Variant type
Duplication
Variant length
6 bp
Cytogenetic location
7p11.2
Genomic location
7: 55181325-55181326 (GRCh38) GRCh38 UCSC
7: 55249018-55249019 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.55249019_55249024dup
NC_000007.14:g.55181326_55181331dup
NM_005228.5:c.2317_2322dup MANE Select NP_005219.2:p.His773_Val774dup
... more HGVS
Protein change
-
Other names
NC_000007.13:g.55249024_55249025insCACGTG
p.His773_Val774dup
Canonical SPDI
NC_000007.14:55181325:CACGTG:CACGTGCACGTG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135869
dbSNP: rs397517116
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 RCV000038418.2
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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: SCV000062090.2
Submitted: (Jan 29, 2015)
Evidence details
Publications
PubMed (2)

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
Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features. Tam IY Clinical cancer research : an official journal of the American Association for Cancer Research 2006 PMID: 16533793
Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants. Greulich H PLoS medicine 2005 PMID: 16187797

Text-mined citations for rs397517116...

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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