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NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Jul 18, 2016)
Last evaluated:
Jul 14, 2015
Accession:
VCV000045239.1
Variation ID:
45239
Description:
single nucleotide variant
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NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)

Allele ID
54406
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p11.2
Genomic location
7: 55174785 (GRCh38) GRCh38 UCSC
7: 55242478 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.55242478G>C
NC_000007.14:g.55174785G>C
NM_005228.5:c.2248G>C MANE Select NP_005219.2:p.Ala750Pro missense
... more HGVS
Protein change
A750P, A705P, A483P, A697P
Other names
-
Canonical SPDI
NC_000007.14:55174784:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135812
dbSNP: rs121913229
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Mar 1, 2008 RCV000038395.2
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000425827.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000442888.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 01, 2008)
no assertion criteria provided
Method: clinical testing
Not Specified
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062067.2
Submitted: (Jan 29, 2015)
Evidence details
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505065.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Non-small cell lung cancer
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505066.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…

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
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
Differential sensitivities to tyrosine kinase inhibitors in NSCLC harboring EGFR mutation and ALK translocation. Lee JK Lung cancer (Amsterdam, Netherlands) 2012 PMID: 22622260
Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. Pao W PLoS medicine 2005 PMID: 15737014
http://docm.genome.wustl.edu/variants/ENST00000275493:c.2248G>C - - - -

Text-mined citations for rs121913229...

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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