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NM_000059.4(BRCA2):c.452T>C (p.Val151Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2018
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:
RCV000160021.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.452T>C (p.Val151Ala)]

NM_000059.4(BRCA2):c.452T>C (p.Val151Ala)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.452T>C (p.Val151Ala)
Other names:
p.V151A:GTA>GCA
HGVS:
  • NC_000013.11:g.32326127T>C
  • NG_012772.3:g.15648T>C
  • NM_000059.4:c.452T>CMANE SELECT
  • NP_000050.2:p.Val151Ala
  • NP_000050.3:p.Val151Ala
  • LRG_293t1:c.452T>C
  • LRG_293:g.15648T>C
  • LRG_293p1:p.Val151Ala
  • NC_000013.10:g.32900264T>C
  • NM_000059.3:c.452T>C
Protein change:
V151A
Links:
dbSNP: rs730881503
NCBI 1000 Genomes Browser:
rs730881503
Molecular consequence:
  • NM_000059.4:c.452T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000210240GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 12, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000210240.10

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

Description

This variant is denoted BRCA2 c.452T>C at the cDNA level, p.Val151Ala (V151A) at the protein level, and results in the change of a Valine to an Alanine (GTA>GCA). Using alternate nomenclature, this variant would be defined as BRCA2 680T>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Val151Ala was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Val151Ala is a pathogenic or benign variant. 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: Sep 29, 2024