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NM_005228.5(EGFR):c.2315_2320dup (p.Val774_Cys775insAlaHis)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2015)
Last evaluated:
Oct 14, 2010
Accession:
VCV000045260.1
Variation ID:
45260
Description:
6bp duplication
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NM_005228.5(EGFR):c.2315_2320dup (p.Val774_Cys775insAlaHis)

Allele ID
54427
Variant type
Duplication
Variant length
6 bp
Cytogenetic location
7p11.2
Genomic location
7: 55181323-55181324 (GRCh38) GRCh38 UCSC
7: 55249016-55249017 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.55249017_55249022dup
NC_000007.14:g.55181324_55181329dup
NM_005228.5:c.2315_2320dup MANE Select NP_005219.2:p.Val774_Cys775insAlaHis
... more HGVS
Protein change
-
Other names
NC_000007.13:g.55249022_55249023insCCCACG
Canonical SPDI
NC_000007.14:55181323:CCCACG:CCCACGCCCACG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135863
dbSNP: rs397517114
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 Oct 14, 2010 RCV000038416.2
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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
(Oct 14, 2010)
criteria provided, single submitter
Method: clinical testing
Non-Small Cell Lung Cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062088.3
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 rs397517114...

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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