NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) AND Head and Neck Neoplasms

Clinical significance:Likely pathogenic (Last evaluated: Dec 26, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000441908.1

Allele description [Variation Report for NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)]

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

Gene:
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)
HGVS:
  • NC_000007.14:g.55174794C>T
  • NG_007726.3:g.160763C>T
  • NM_001346897.2:c.2122C>T
  • NM_001346898.2:c.2257C>T
  • NM_001346899.1:c.2122C>T
  • NM_001346900.2:c.2098C>T
  • NM_001346941.2:c.1456C>T
  • NM_005228.5:c.2257C>TMANE SELECT
  • NP_001333826.1:p.Pro708Ser
  • NP_001333827.1:p.Pro753Ser
  • NP_001333828.1:p.Pro708Ser
  • NP_001333829.1:p.Pro700Ser
  • NP_001333870.1:p.Pro486Ser
  • NP_005219.2:p.Pro753Ser
  • LRG_304:g.160763C>T
  • NC_000007.13:g.55242487C>T
Protein change:
P486S
Links:
dbSNP: rs121913231
NCBI 1000 Genomes Browser:
rs121913231
Molecular consequence:
  • NM_001346897.2:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.1:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.2098C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Head and Neck Neoplasms
Identifiers:
MONDO: MONDO:0005586; MeSH: D006258; MedGen: C0018671

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505068Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Dec 26, 2014)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Epidermal Growth Factor Receptor P753S Mutation in Cutaneous Squamous Cell Carcinoma Responsive to Cetuximab-Based Therapy.

Ganesan P, Ali SM, Wang K, Blumenschein GR, Esmaeli B, Wolff RA, Miller VA, Stephens PJ, Ross JS, Palmer GA, Janku F.

J Clin Oncol. 2016 Feb 10;34(5):e34-7. doi: 10.1200/JCO.2013.50.3516. Epub 2014 Jun 16. No abstract available.

PubMed [citation]
PMID:
24934779

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505068.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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