NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Oct 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000440300.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)]

NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)

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.3509C>T (p.Ala1170Val)
HGVS:
  • NC_000013.11:g.32337864C>T
  • NG_012772.3:g.27385C>T
  • NM_000059.3:c.3509C>T
  • NM_000059.4:c.3509C>TMANE SELECT
  • NP_000050.2:p.Ala1170Val
  • NP_000050.3:p.Ala1170Val
  • LRG_293t1:c.3509C>T
  • LRG_293:g.27385C>T
  • LRG_293p1:p.Ala1170Val
  • NC_000013.10:g.32912001C>T
  • NM_000059.4:c.3509C>T
  • U43746.1:n.3737C>T
Nucleotide change:
3737C>T
Protein change:
A1170V
Links:
dbSNP: rs80358599
NCBI 1000 Genomes Browser:
rs80358599
Molecular consequence:
  • NM_000059.3:c.3509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.3509C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000512355GeneDxcriteria provided, single submitter
Likely benign
(Oct 26, 2017)
germlineclinical testing

Citation Link,

SCV000600554Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(May 31, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE.

J Clin Oncol. 2008 Nov 20;26(33):5393-400. doi: 10.1200/JCO.2008.17.8228. Epub 2008 Sep 29. Erratum in: J Clin Oncol. 2009 May 10;27(14):2415.

PubMed [citation]
PMID:
18824701
PMCID:
PMC2651073

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV.

Hum Mutat. 2012 Jan;33(1):22-8. doi: 10.1002/humu.21629. Epub 2011 Nov 3.

PubMed [citation]
PMID:
21990165
PMCID:
PMC3478957
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000512355.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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