NM_000059.3(BRCA2):c.1287A>G (p.Leu429=) AND Breast-ovarian cancer, familial 2

Clinical significance:Likely benign (Last evaluated: Jun 29, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000112903.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.1287A>G (p.Leu429=)]

NM_000059.3(BRCA2):c.1287A>G (p.Leu429=)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.1287A>G (p.Leu429=)
Other names:
1515A/G
HGVS:
  • NC_000013.11:g.32332765A>G
  • NG_012772.3:g.22286A>G
  • NM_000059.3:c.1287A>G
  • NP_000050.2:p.Leu429=
  • LRG_293t1:c.1287A>G
  • LRG_293:g.22286A>G
  • LRG_293p1:p.Leu429=
  • NC_000013.10:g.32906902A>G
  • U43746.1:n.1515A>G
Links:
Breast Cancer Information Core (BIC) (BRCA2): 1515&base_change=A to G; dbSNP: rs80359782
NCBI 1000 Genomes Browser:
rs80359782
Molecular consequence:
  • NM_000059.3:c.1287A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000145846Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Nov 30, 1998)
germlineclinical testing

SCV000579035Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Likely benign
(Jun 29, 2017)
germlinecuration

Citation Link,

SCV000785612Counsylcriteria provided, single submitter
Likely benign
(Oct 10, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Pakistangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.

Wagner TM, Hirtenlehner K, Shen P, Moeslinger R, Muhr D, Fleischmann E, Concin H, Doeller W, Haid A, Lang AH, Mayer P, Petru E, Ropp E, Langbauer G, Kubista E, Scheiner O, Underhill P, Mountain J, Stierer M, Zielinski C, Oefner P.

Hum Mol Genet. 1999 Mar;8(3):413-23. Erratum in: Hum Mol Genet 1999 Apr;8(4):717-9.

PubMed [citation]
PMID:
9971877

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Pakistan1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000579035.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

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

From Counsyl, SCV000785612.2

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

Last Updated: Aug 27, 2021

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