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NM_000546.6(TP53):c.814G>A (p.Val272Met) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 11, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002243833.5

Allele description [Variation Report for NM_000546.6(TP53):c.814G>A (p.Val272Met)]

NM_000546.6(TP53):c.814G>A (p.Val272Met)

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.814G>A (p.Val272Met)
HGVS:
  • NC_000017.11:g.7673806C>T
  • NG_017013.2:g.18745G>A
  • NM_000546.6:c.814G>AMANE SELECT
  • NM_001126112.3:c.814G>A
  • NM_001126113.3:c.814G>A
  • NM_001126114.3:c.814G>A
  • NM_001126115.2:c.418G>A
  • NM_001126116.2:c.418G>A
  • NM_001126117.2:c.418G>A
  • NM_001126118.2:c.697G>A
  • NM_001276695.3:c.697G>A
  • NM_001276696.3:c.697G>A
  • NM_001276697.3:c.337G>A
  • NM_001276698.3:c.337G>A
  • NM_001276699.3:c.337G>A
  • NM_001276760.3:c.697G>A
  • NM_001276761.3:c.697G>A
  • NP_000537.3:p.Val272Met
  • NP_000537.3:p.Val272Met
  • NP_001119584.1:p.Val272Met
  • NP_001119585.1:p.Val272Met
  • NP_001119586.1:p.Val272Met
  • NP_001119587.1:p.Val140Met
  • NP_001119588.1:p.Val140Met
  • NP_001119589.1:p.Val140Met
  • NP_001119590.1:p.Val233Met
  • NP_001263624.1:p.Val233Met
  • NP_001263625.1:p.Val233Met
  • NP_001263626.1:p.Val113Met
  • NP_001263627.1:p.Val113Met
  • NP_001263628.1:p.Val113Met
  • NP_001263689.1:p.Val233Met
  • NP_001263690.1:p.Val233Met
  • LRG_321t1:c.814G>A
  • LRG_321t3:c.814G>A
  • LRG_321:g.18745G>A
  • LRG_321p1:p.Val272Met
  • NC_000017.10:g.7577124C>T
  • NM_000546.4:c.814G>A
  • NM_000546.5(TP53):c.814G>A
  • NM_000546.5:c.814G>A
  • P04637:p.Val272Met
  • p.V272M
Protein change:
V113M
Links:
UniProtKB: P04637#VAR_045354; dbSNP: rs121912657
NCBI 1000 Genomes Browser:
rs121912657
Molecular consequence:
  • NM_000546.6:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002513657GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 11, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002513657.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate a damaging effect: non-functional transactivation, lack of growth suppression and apoptotic activities, and a dominant-negative effect per some reporters (Ponchel et al., 1998; Kato et al., 2003; Baroni et al., 2004; Dearth et al., 2007; Giacomelli et al., 2018; Kotler et al., 2018); Identified in individuals reported to have Li-Fraumeni-related cancers (Bougeard et al., 2008; Raymond et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 16322298, 7651740, 9635828, 26230955, 27121310, 21643842, 15037740, 16861262, 11429700, 10753186, 9096669, 19003964, 9290701, 14559903, 26425688, 25787918, 27101868, 27926791, 21319261, 15221786, 25584008, 11870884, 25407396, 28861920, 30720243, 30840781, 34426522, 29997966, 27311873, 31200822, Kim2019[article], 32371587, 33531134, 28243320, 32260152, 35974385, 23175693, 30914417, 18511570, 12826609, 29979965, 30224644, 29070607, 15510160, 32658383, 34544131, 34382015, 34306021, 34583722, 34544143, 32165485, 32164171)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024