NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) AND Breast-ovarian cancer, familial 2

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000031425.7

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]
Observations:
5

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054030Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(Jan 26, 2010)
germlineclinical testing

SCV000146247Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

SCV000488148Counsylcriteria provided, single submitter
Uncertain significance
(Feb 19, 2016)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001139064Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Western Europeangermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex.

Doss CG, Nagasundaram N.

Cell Biochem Biophys. 2014 Nov;70(2):939-56. doi: 10.1007/s12013-014-0002-9.

PubMed [citation]
PMID:
24817641

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 (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054030.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146247.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Western European3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided3not providednot providednot provided

From Counsyl, SCV000488148.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001139064.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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