U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.2496G>A (p.Glu832=) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 29, 2017
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:
RCV000495032.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.2496G>A (p.Glu832=)]

NM_000059.4(BRCA2):c.2496G>A (p.Glu832=)

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.2496G>A (p.Glu832=)
HGVS:
  • NC_000013.11:g.32336851G>A
  • NG_012772.3:g.26372G>A
  • NM_000059.4:c.2496G>AMANE SELECT
  • NP_000050.2:p.Glu832=
  • NP_000050.3:p.Glu832=
  • LRG_293t1:c.2496G>A
  • LRG_293:g.26372G>A
  • LRG_293p1:p.Glu832=
  • NC_000013.10:g.32910988G>A
  • NM_000059.3:c.2496G>A
  • p.E832E
Links:
dbSNP: rs786201479
NCBI 1000 Genomes Browser:
rs786201479
Molecular consequence:
  • NM_000059.4:c.2496G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579131Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Likely benign
(Jun 29, 2017) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000579131.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

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

Last Updated: Sep 29, 2024