NM_000059.3(BRCA2):c.9380G>A (p.Trp3127Ter) AND Breast-ovarian cancer, familial 2

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000031818.6

Allele description [Variation Report for NM_000059.3(BRCA2):c.9380G>A (p.Trp3127Ter)]

NM_000059.3(BRCA2):c.9380G>A (p.Trp3127Ter)

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.9380G>A (p.Trp3127Ter)
HGVS:
  • NC_000013.11:g.32394812G>A
  • NG_012772.3:g.84333G>A
  • NM_000059.3:c.9380G>A
  • NP_000050.2:p.Trp3127Ter
  • LRG_293t1:c.9380G>A
  • LRG_293:g.84333G>A
  • LRG_293p1:p.Trp3127Ter
  • NC_000013.10:g.32968949G>A
  • U43746.1:n.9608G>A
  • p.Trp3127*
  • p.W3127*
Nucleotide change:
9608G>A
Protein change:
W3127*
Links:
dbSNP: 80359211
NCBI 1000 Genomes Browser:
rs80359211
Molecular consequence:
  • NM_000059.3:c.9380G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
10

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:
MedGen: C2675520; Orphanet: 145; OMIM: 612555

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054426Sharing Clinical Reports Project (SCRP)no assertion criteria providedPathogenic
(Apr 29, 2010)
germlineclinical testing

SCV000147624Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedPathogenic
(May 29, 2002)
germlineclinical testing

SCV000296586Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Dec 11, 2015)
germlineclinical testing

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

SCV000301386Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000328119Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridgecriteria provided, single submitter
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided10not providednot providednot providedclinical testing, curation
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Asiangermlineyes1not providednot providednot providednot providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

Juwle A, Saranath D.

Med Oncol. 2012 Dec;29(5):3272-81. doi: 10.1007/s12032-012-0294-9. Epub 2012 Jul 3.

PubMed [citation]
PMID:
22752604

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Pettigrew CA, Wayte N, Wronski A, Lovelock PK, Spurdle AB, Brown MA.

Breast Cancer Res Treat. 2008 Jul;110(2):227-34. Epub 2007 Sep 26.

PubMed [citation]
PMID:
17899372
See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054426.3

#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), SCV000147624.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
2Asian1not providednot providedclinical testingnot provided
3Caucasian1not providednot providedclinical testingnot provided
4Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296586.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000301386.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000328119.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided10not provided

Last Updated: Dec 19, 2017