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NM_000059.4(BRCA2):c.430G>T (p.Val144Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 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:
RCV000589981.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.430G>T (p.Val144Phe)]

NM_000059.4(BRCA2):c.430G>T (p.Val144Phe)

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.430G>T (p.Val144Phe)
HGVS:
  • NC_000013.11:g.32326105G>T
  • NG_012772.3:g.15626G>T
  • NM_000059.4:c.430G>TMANE SELECT
  • NP_000050.2:p.Val144Phe
  • NP_000050.3:p.Val144Phe
  • LRG_293t1:c.430G>T
  • LRG_293:g.15626G>T
  • LRG_293p1:p.Val144Phe
  • NC_000013.10:g.32900242G>T
  • NM_000059.3:c.430G>T
Protein change:
V144F
Links:
dbSNP: rs876661259
NCBI 1000 Genomes Browser:
rs876661259
Molecular consequence:
  • NM_000059.4:c.430G>T - 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
SCV000694758Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 14, 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, SCV000694758.1

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

Description

Variant summary: The BRCA2 c.430G>T (p.Val144Phe) variant involves the alteration of a non-conserved nucleotide and 3/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. This variant is absent in 120990 control chromosomes (ExAC). The variant of interest has not been, to our knowledge, reported in affected individuals via clinical diagnostic laboratories/reputable databases. A publication, Beltrame_2015, reports the variant as a somatic occurrence in an epithelial ovarian tumor. 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