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NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 18, 2016)
Last evaluated:
Jul 14, 2015
Accession:
VCV000376081.1
Variation ID:
376081
Description:
single nucleotide variant
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NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)

Allele ID
362960
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p11.2
Genomic location
7: 55174794 (GRCh38) GRCh38 UCSC
7: 55242487 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.55242487C>T
NC_000007.14:g.55174794C>T
NM_005228.5:c.2257C>T MANE Select NP_005219.2:p.Pro753Ser missense
... more HGVS
Protein change
P753S, P486S, P708S, P700S
Other names
-
Canonical SPDI
NC_000007.14:55174793:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA4266020
dbSNP: rs121913231
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 Jul 14, 2015 RCV000436542.1
Likely pathogenic 1 no assertion criteria provided Dec 26, 2014 RCV000441908.1
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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
Likely pathogenic
(Dec 26, 2014)
no assertion criteria provided
Method: literature only
Head and Neck Neoplasms
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505068.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
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: SCV000505067.1
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
Epidermal Growth Factor Receptor P753S Mutation in Cutaneous Squamous Cell Carcinoma Responsive to Cetuximab-Based Therapy. Ganesan P Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 PMID: 24934779
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
PF00299804, an irreversible pan-ERBB inhibitor, is effective in lung cancer models with EGFR and ERBB2 mutations that are resistant to gefitinib. Engelman JA Cancer research 2007 PMID: 18089823
http://docm.genome.wustl.edu/variants/ENST00000275493:c.2257C>T - - - -

Text-mined citations for rs121913231...

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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 Apr 12, 2021