NM_000546.5(TP53):c.188C>T (p.Ala63Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Mar 14, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000161018.7

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000215136Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 6, 2018)
germlineclinical testing

Citation Link,

SCV000908800Color Health, Inccriteria provided, single submitter
Uncertain significance
(Mar 14, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

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

Details of each submission

From Ambry Genetics, SCV000215136.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.A63V variant (also known as c.188C>T), located in coding exon 3 of the TP53 gene, results from a C to T substitution at nucleotide position 188. The alanine at codon 63 is replaced by valine, an amino acid with similar properties. This variant is in the proline-rich domain of the TP53 protein and was not found to have an effect on transactivation capacity in yeast based assays (IARC TP53 database; Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9). This amino acid position is not well conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV000908800.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2021

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