NM_000546.5(TP53):c.188C>T (p.Ala63Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000213047.2

Allele description [Variation Report for NM_000546.5(TP53):c.188C>T (p.Ala63Val)]

NM_000546.5(TP53):c.188C>T (p.Ala63Val)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.188C>T (p.Ala63Val)
Other names:
p.A63V:GCT>GTT
HGVS:
  • NC_000017.11:g.7676181G>A
  • NG_017013.2:g.16370C>T
  • NM_000546.5:c.188C>T
  • NM_001126112.2:c.188C>T
  • NM_001126113.2:c.188C>T
  • NM_001126114.2:c.188C>T
  • NM_001126118.1:c.71C>T
  • NM_001276695.2:c.71C>T
  • NM_001276696.2:c.71C>T
  • NM_001276760.2:c.71C>T
  • NM_001276761.2:c.71C>T
  • NP_000537.3:p.Ala63Val
  • NP_001119584.1:p.Ala63Val
  • NP_001119585.1:p.Ala63Val
  • NP_001119586.1:p.Ala63Val
  • NP_001119590.1:p.Ala24Val
  • NP_001263624.1:p.Ala24Val
  • NP_001263625.1:p.Ala24Val
  • NP_001263689.1:p.Ala24Val
  • NP_001263690.1:p.Ala24Val
  • LRG_321t1:c.188C>T
  • LRG_321t2:c.188C>T
  • LRG_321t3:c.188C>T
  • LRG_321t4:c.188C>T
  • LRG_321t8:c.71C>T
  • LRG_321:g.16370C>T
  • LRG_321:p.Ala63Val
  • LRG_321p1:p.Ala63Val
  • LRG_321p3:p.Ala63Val
  • LRG_321p4:p.Ala63Val
  • LRG_321p8:p.Ala24Val
  • NC_000017.10:g.7579499G>A
  • NM_000546.4:c.188C>T
  • NM_001126112.2(TP53):c.188C>T
  • P04637:p.Ala63Val
  • p.A63V
Protein change:
A24V
Links:
UniProtKB: P04637#VAR_044590; dbSNP: rs372201428
NCBI 1000 Genomes Browser:
rs372201428
Molecular consequence:
  • NM_000546.5:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000211735GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 2, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211735.12

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

Description

This variant is denoted TP53 c.188C>T at the cDNA level, p.Ala63Val (A63V) at the protein level, and results in the change of an Alanine to a Valine (GCT>GTT). This variant is reported as having functional transactivation in the International Agency for Research on Cancer TP53 database based on functional assays by Kato et al. (2003). TP53 Ala63Val was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Alanine and Valine share similar properties, this is considered a conservative amino acid substitution. TP53 Ala63Val occurs at a position that is not conserved and is located in the SH3 Domain (Bode 2004). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether TP53 Ala63Val is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Jun 23, 2021

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