NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) AND Squamous cell carcinoma of the head and neck

Clinical significance:drug response

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:
RCV000114405.1

Allele description [Variation Report for NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)]

NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)

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.2155G>C (p.Gly719Arg)
HGVS:
  • NC_000007.14:g.55174014G>C
  • NG_007726.3:g.159983G>C
  • NM_001346897.2:c.2020G>C
  • NM_001346898.2:c.2155G>C
  • NM_001346899.1:c.2020G>C
  • NM_001346900.2:c.1996G>C
  • NM_001346941.2:c.1354G>C
  • NM_005228.5:c.2155G>CMANE SELECT
  • NP_001333826.1:p.Gly674Arg
  • NP_001333827.1:p.Gly719Arg
  • NP_001333828.1:p.Gly674Arg
  • NP_001333829.1:p.Gly666Arg
  • NP_001333870.1:p.Gly452Arg
  • NP_005219.2:p.Gly719Arg
  • NP_005219.2:p.Gly719Arg
  • LRG_304t1:c.2155G>C
  • LRG_304:g.159983G>C
  • LRG_304p1:p.Gly719Arg
  • NC_000007.13:g.55241707G>C
  • NM_005228.3:c.2155G>C
  • c.2155G>C
Protein change:
G452R
Links:
dbSNP: rs28929495
NCBI 1000 Genomes Browser:
rs28929495
Molecular consequence:
  • NM_001346897.2:c.2020G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2155G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.1:c.2020G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.1996G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2155G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Squamous cell carcinoma of the head and neck (HNSCC)
Synonyms:
Head and neck squamous cell carcinoma; Carcinoma, squamous cell of head and neck; Squamous cell carcinoma, head and neck, somatic
Identifiers:
MONDO: MONDO:0010150; MeSH: D000077195; MedGen: C1168401; Orphanet: 67037; OMIM: 275355

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000148122Genetics, Bhagwan Mahavir Medical Research Centreno assertion criteria provideddrug-responsenot providednot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Epidermal growth factor receptor (EGFR) mutations as biomarker for head and neck squamous cell carcinomas (HNSCC).

Nagalakshmi K, Jamil K, Pingali U, Reddy MV, Attili SS.

Biomarkers. 2014 May;19(3):198-206. doi: 10.3109/1354750X.2014.895852. Epub 2014 Apr 8.

PubMed [citation]
PMID:
24712396

Details of each submission

From Genetics, Bhagwan Mahavir Medical Research Centre, SCV000148122.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to drug response.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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