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NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Sep 8, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000031380.14

Allele description [Variation Report for NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)]

NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)

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.274C>T (p.Gln92Ter)
Other names:
p.Q92*:CAA>TAA
HGVS:
  • NC_000013.11:g.32319283C>T
  • NG_012772.3:g.8804C>T
  • NG_017006.2:g.1081G>A
  • NM_000059.4:c.274C>TMANE SELECT
  • NP_000050.2:p.Gln92Ter
  • NP_000050.3:p.Gln92Ter
  • LRG_293t1:c.274C>T
  • LRG_293:g.8804C>T
  • LRG_293p1:p.Gln92Ter
  • NC_000013.10:g.32893420C>T
  • NM_000059.3:c.274C>T
  • U43746.1:n.502C>T
  • p.Gln92*
Nucleotide change:
502C>T
Protein change:
Q92*
Links:
dbSNP: rs80358529
NCBI 1000 Genomes Browser:
rs80358529
Molecular consequence:
  • NM_000059.4:c.274C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053985Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(Apr 16, 2012) 		germlineclinical testing

SCV000146483Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenic
(Feb 20, 2004) 		germlineclinical testing

SCV000300313Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Sep 8, 2016) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Latin American, Caribbeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053985.3

#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), SCV000146483.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Latin American, Caribbean1not 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), SCV000300313.2

#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

Last Updated: Nov 10, 2024