NM_000546.6(TP53):c.747G>T AND Squamous cell carcinoma of the head and neck

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001270276.1

Allele description [Variation Report for NM_000546.6(TP53):c.747G>T]

NM_000546.6(TP53):c.747G>T

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.747G>T
HGVS:
  • NC_000017.11:g.7674216C>A
  • NG_017013.2:g.18335G>T
  • NM_000546.5:c.747G>T
  • NM_000546.6:c.747G>TMANE SELECT
  • NM_001126112.2:c.747G>T
  • NM_001126113.2:c.747G>T
  • NM_001126114.2:c.747G>T
  • NM_001126115.1:c.351G>T
  • NM_001126116.1:c.351G>T
  • NM_001126117.1:c.351G>T
  • NM_001126118.1:c.630G>T
  • NM_001276695.2:c.630G>T
  • NM_001276696.2:c.630G>T
  • NM_001276697.2:c.270G>T
  • NM_001276698.2:c.270G>T
  • NM_001276699.2:c.270G>T
  • NM_001276760.2:c.630G>T
  • NM_001276761.2:c.630G>T
  • NP_000537.3:p.Arg249Ser
  • NP_001119584.1:p.Arg249Ser
  • NP_001119585.1:p.Arg249Ser
  • NP_001119586.1:p.Arg249Ser
  • NP_001119587.1:p.Arg117Ser
  • NP_001119588.1:p.Arg117Ser
  • NP_001119589.1:p.Arg117Ser
  • NP_001119590.1:p.Arg210Ser
  • NP_001263624.1:p.Arg210Ser
  • NP_001263625.1:p.Arg210Ser
  • NP_001263626.1:p.Arg90Ser
  • NP_001263627.1:p.Arg90Ser
  • NP_001263628.1:p.Arg90Ser
  • NP_001263689.1:p.Arg210Ser
  • NP_001263690.1:p.Arg210Ser
  • LRG_321t1:c.747G>T
  • LRG_321t2:c.747G>T
  • LRG_321t3:c.747G>T
  • LRG_321t4:c.747G>T
  • LRG_321t5:c.351G>T
  • LRG_321t6:c.351G>T
  • LRG_321t7:c.351G>T
  • LRG_321t8:c.630G>T
  • LRG_321:g.18335G>T
  • LRG_321:p.Arg249Ser
  • LRG_321p1:p.Arg249Ser
  • LRG_321p3:p.Arg249Ser
  • LRG_321p4:p.Arg249Ser
  • LRG_321p5:p.Arg117Ser
  • LRG_321p6:p.Arg117Ser
  • LRG_321p7:p.Arg117Ser
  • LRG_321p8:p.Arg210Ser
  • NC_000017.10:g.7577534C>A
  • NM_000546.4:c.747G>T
  • P04637:p.Arg249Ser
Protein change:
R117S; ARG249SER
Links:
UniProtKB: P04637#VAR_005986; OMIM: 191170.0006; dbSNP: rs28934571
NCBI 1000 Genomes Browser:
rs28934571
Molecular consequence:
  • NM_000546.5:c.747G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.747G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.747G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.747G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.1:c.351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.1:c.351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.1:c.351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.2:c.270G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.2:c.270G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.2:c.270G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.630G>T - 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
SCV001450493Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombocriteria provided, single submitter
Pathogenicsomaticcase-control

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Manoharan V, Karunanayake EH, Tennekoon KH, De Silva S, De Silva K, Angunawela P, Lunec J.

Mol Med Rep. 2019 Apr;19(4):2781-2791. doi: 10.3892/mmr.2019.9948. Epub 2019 Feb 11.

PubMed [citation]
PMID:
30816478
PMCID:
PMC6423636

Details of each submission

From Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo, SCV001450493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 17, 2021

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