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NM_000059.4(BRCA2):c.476T>C (p.Val159Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 2017
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:
RCV000587045.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.476T>C (p.Val159Ala)]

NM_000059.4(BRCA2):c.476T>C (p.Val159Ala)

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.476T>C (p.Val159Ala)
HGVS:
  • NC_000013.11:g.32326242T>C
  • NG_012772.3:g.15763T>C
  • NM_000059.4:c.476T>CMANE SELECT
  • NP_000050.2:p.Val159Ala
  • NP_000050.3:p.Val159Ala
  • LRG_293t1:c.476T>C
  • LRG_293:g.15763T>C
  • LRG_293p1:p.Val159Ala
  • NC_000013.10:g.32900379T>C
  • NM_000059.3:c.476T>C
Protein change:
V159A
Links:
dbSNP: rs81002884
NCBI 1000 Genomes Browser:
rs81002884
Molecular consequence:
  • NM_000059.4:c.476T>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
SCV000694802Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 28, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000694802.1

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

Description

Variant summary: The BRCA2 c.476T>C (p.Val159Ala) variant involves the alteration of a not conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant is absent in 120216 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Sep 29, 2024