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NM_000546.6(TP53):c.658T>C (p.Tyr220His) AND Squamous cell carcinoma of the head and neck

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000430823.1

Allele description [Variation Report for NM_000546.6(TP53):c.658T>C (p.Tyr220His)]

NM_000546.6(TP53):c.658T>C (p.Tyr220His)

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.658T>C (p.Tyr220His)
HGVS:
  • NC_000017.11:g.7674873A>G
  • NG_017013.2:g.17678T>C
  • NM_000546.6:c.658T>CMANE SELECT
  • NM_001126112.3:c.658T>C
  • NM_001126113.3:c.658T>C
  • NM_001126114.3:c.658T>C
  • NM_001126115.2:c.262T>C
  • NM_001126116.2:c.262T>C
  • NM_001126117.2:c.262T>C
  • NM_001126118.2:c.541T>C
  • NM_001276695.3:c.541T>C
  • NM_001276696.3:c.541T>C
  • NM_001276697.3:c.181T>C
  • NM_001276698.3:c.181T>C
  • NM_001276699.3:c.181T>C
  • NM_001276760.3:c.541T>C
  • NM_001276761.3:c.541T>C
  • NP_000537.3:p.Tyr220His
  • NP_000537.3:p.Tyr220His
  • NP_001119584.1:p.Tyr220His
  • NP_001119585.1:p.Tyr220His
  • NP_001119586.1:p.Tyr220His
  • NP_001119587.1:p.Tyr88His
  • NP_001119588.1:p.Tyr88His
  • NP_001119589.1:p.Tyr88His
  • NP_001119590.1:p.Tyr181His
  • NP_001263624.1:p.Tyr181His
  • NP_001263625.1:p.Tyr181His
  • NP_001263626.1:p.Tyr61His
  • NP_001263627.1:p.Tyr61His
  • NP_001263628.1:p.Tyr61His
  • NP_001263689.1:p.Tyr181His
  • NP_001263690.1:p.Tyr181His
  • LRG_321t1:c.658T>C
  • LRG_321:g.17678T>C
  • LRG_321p1:p.Tyr220His
  • NC_000017.10:g.7578191A>G
  • NM_000546.4:c.658T>C
  • NM_000546.5:c.658T>C
Protein change:
Y181H
Links:
dbSNP: rs530941076
NCBI 1000 Genomes Browser:
rs530941076
Molecular consequence:
  • NM_000546.6:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.541T>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000510236Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510236.1

#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: Nov 10, 2024