NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Squamous cell carcinoma of the head and neck

This record was updated by the submitter. Please see the current version.

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:: RCV000422097.1

Allele description

NM_000546.6(TP53):c.818G>A (p.Arg273His)

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.818G>A (p.Arg273His)

Other names:

p.R273H:CGT>CAT

HGVS:

NC_000017.11:g.7673802C>T
NG_017013.2:g.18749G>A
NM_000546.5:c.818G>A
NM_000546.6:c.818G>AMANE SELECT
NM_001126112.2:c.818G>A
NM_001126113.2:c.818G>A
NM_001126114.2:c.818G>A
NM_001126115.1:c.422G>A
NM_001126116.1:c.422G>A
NM_001126117.1:c.422G>A
NM_001126118.1:c.701G>A
NM_001276695.2:c.701G>A
NM_001276696.2:c.701G>A
NM_001276697.2:c.341G>A
NM_001276698.2:c.341G>A
NM_001276699.2:c.341G>A
NM_001276760.2:c.701G>A
NM_001276761.2:c.701G>A
NP_000537.3:p.Arg273His
NP_000537.3:p.Arg273His
NP_001119584.1:p.Arg273His
NP_001119585.1:p.Arg273His
NP_001119586.1:p.Arg273His
NP_001119587.1:p.Arg141His
NP_001119588.1:p.Arg141His
NP_001119589.1:p.Arg141His
NP_001119590.1:p.Arg234His
NP_001263624.1:p.Arg234His
NP_001263625.1:p.Arg234His
NP_001263626.1:p.Arg114His
NP_001263627.1:p.Arg114His
NP_001263628.1:p.Arg114His
NP_001263689.1:p.Arg234His
NP_001263690.1:p.Arg234His
LRG_321t1:c.818G>A
LRG_321t2:c.818G>A
LRG_321t3:c.818G>A
LRG_321t4:c.818G>A
LRG_321t5:c.422G>A
LRG_321t6:c.422G>A
LRG_321t7:c.422G>A
LRG_321t8:c.701G>A
LRG_321:g.18749G>A
LRG_321:p.Arg273His
LRG_321p1:p.Arg273His
LRG_321p3:p.Arg273His
LRG_321p4:p.Arg273His
LRG_321p5:p.Arg141His
LRG_321p6:p.Arg141His
LRG_321p7:p.Arg141His
LRG_321p8:p.Arg234His
NC_000017.10:g.7577120C>T
NM_000546.4:c.818G>A
NM_000546.5(TP53):c.818G>A
P04637:p.Arg273His
p.R273H

Protein change:

R114H; ARG273HIS

Links:

UniProtKB: P04637#VAR_005995; OMIM: 191170.0020; dbSNP: rs28934576

Molecular consequence:

NM_000546.5:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_000546.6:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.2:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.2:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.2:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.1:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.1:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.1:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.2:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.2:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.2:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.2:c.701G>A - 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: C535575; MedGen: C1168401; Orphanet: 67037; OMIM: 275355

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000504662	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504662

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]

PMID:: 26619011
PMCID:: PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504662.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2020

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