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NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2015
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:
RCV000766361.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly)]

NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly)

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.6452T>G (p.Val2151Gly)
HGVS:
  • NC_000013.11:g.32340807T>G
  • NG_012772.3:g.30328T>G
  • NM_000059.4:c.6452T>GMANE SELECT
  • NP_000050.2:p.Val2151Gly
  • NP_000050.3:p.Val2151Gly
  • LRG_293t1:c.6452T>G
  • LRG_293:g.30328T>G
  • LRG_293p1:p.Val2151Gly
  • NC_000013.10:g.32914944T>G
  • NM_000059.3:c.6452T>G
Protein change:
V2151G
Links:
dbSNP: rs1064793743
NCBI 1000 Genomes Browser:
rs1064793743
Molecular consequence:
  • NM_000059.4:c.6452T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000566917GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 11, 2015) 		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, SCV000566917.4

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

Description

This variant is denoted BRCA2 c.6452T>G at the cDNA level, p.Val2151Gly (V2151G) at the protein level, and results in the change of a Valine to a Glycine (GTT>GGT). Using alternate nomenclature, this variant would be defined as BRCA2 6680T>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Val2151Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Valine and Glycine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Val2151Gly occurs at a position that is not conserved and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Val2151Gly 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: Sep 29, 2024