NM_000059.3(BRCA2):c.9523G>T (p.Glu3175Ter) 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:
3 submissions [Details]
Record status:
current
Accession:
RCV000031829.4

Allele description [Variation Report for NM_000059.3(BRCA2):c.9523G>T (p.Glu3175Ter)]

NM_000059.3(BRCA2):c.9523G>T (p.Glu3175Ter)

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.9523G>T (p.Glu3175Ter)
HGVS:
  • NC_000013.11:g.32396919G>T
  • NG_012772.3:g.86440G>T
  • NM_000059.3:c.9523G>T
  • NP_000050.2:p.Glu3175Ter
  • LRG_293t1:c.9523G>T
  • LRG_293:g.86440G>T
  • LRG_293p1:p.Glu3175Ter
  • NC_000013.10:g.32971056G>T
Nucleotide change:
9751G>T
Protein change:
E3175*
Links:
dbSNP: 397507430
NCBI 1000 Genomes Browser:
rs397507430
Molecular consequence:
  • NM_000059.3:c.9523G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
4

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054437Sharing Clinical Reports Project (SCRP)no assertion criteria providedPathogenic
(Feb 18, 2011)
germlineclinical testing

SCV000301400Evidence-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,

SCV000605646Department of Medical Genetics,Oslo University Hospitalcriteria provided, single submitter
Pathogenic
(Jul 1, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054437.3

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000301400.2

#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 Department of Medical Genetics,Oslo University Hospital, SCV000605646.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: May 3, 2018