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NM_000059.4(BRCA2):c.2983G>T (p.Gly995Ter) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 18, 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:
RCV000256489.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.2983G>T (p.Gly995Ter)]

NM_000059.4(BRCA2):c.2983G>T (p.Gly995Ter)

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.2983G>T (p.Gly995Ter)
Other names:
3211G>T
HGVS:
  • NC_000013.11:g.32337338G>T
  • NG_012772.3:g.26859G>T
  • NM_000059.4:c.2983G>TMANE SELECT
  • NP_000050.2:p.Gly995Ter
  • NP_000050.3:p.Gly995Ter
  • LRG_293t1:c.2983G>T
  • LRG_293:g.26859G>T
  • LRG_293p1:p.Gly995Ter
  • NC_000013.10:g.32911475G>T
  • NM_000059.3:c.2983G>T
  • p.Gly995X
Protein change:
G995*
Links:
dbSNP: rs886040457
NCBI 1000 Genomes Browser:
rs886040457
Molecular consequence:
  • NM_000059.4:c.2983G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000324124Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Oct 18, 2016) 		germlinecuration

Citation Link,

SCV000326797Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)		Pathogenic
(Oct 2, 2015) 		germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000324124.2

#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, SCV000326797.4

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

Last Updated: Nov 10, 2024