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NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) 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:
4 submissions [Details]
Record status:
current
Accession:
RCV000031698.6

Allele description

NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)

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.7758G>A (p.Trp2586Ter)
HGVS:
  • NC_000013.11:g.32357882G>A
  • NG_012772.3:g.47403G>A
  • NM_000059.3:c.7758G>A
  • NM_000059.4:c.7758G>AMANE SELECT
  • NP_000050.2:p.Trp2586Ter
  • NP_000050.3:p.Trp2586Ter
  • LRG_293t1:c.7758G>A
  • LRG_293:g.47403G>A
  • LRG_293p1:p.Trp2586Ter
  • NC_000013.10:g.32932019G>A
  • U43746.1:n.7986G>A
  • p.Trp2586X
Nucleotide change:
7986G>A
Protein change:
W2586*
Links:
dbSNP: rs80359004
NCBI 1000 Genomes Browser:
rs80359004
Molecular consequence:
  • NM_000059.3:c.7758G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000059.4:c.7758G>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:
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
SCV000054305Sharing Clinical Reports Project (SCRP)no assertion criteria providedPathogenic
(Jun 9, 2008)
germlineclinical testing

SCV000147173Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedPathogenic
(Feb 20, 2004)
germlineclinical testing

SCV000301200Evidence-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,

SCV000327725Consortium 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 providedgermlineunknownnot provided10not providednot providednot providedclinical testing, curation
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Latin American, Caribbeangermlineyes1not providednot providednot providednot providedclinical testing
Western European, Near Easterngermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054305.3

#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), SCV000147173.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Latin American, Caribbean1not providednot providedclinical testingnot provided
2Western European, Near Eastern1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000301200.2

#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, SCV000327725.3

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

Last Updated: Apr 2, 2021

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