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NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (2 submissions)
Last evaluated:
May 28, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000624981.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)]

NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)

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.2926T>A (p.Ser976Thr)
HGVS:
  • NC_000013.11:g.32337281T>A
  • NG_012772.3:g.26802T>A
  • NM_000059.4:c.2926T>AMANE SELECT
  • NP_000050.2:p.Ser976Thr
  • NP_000050.3:p.Ser976Thr
  • LRG_293t1:c.2926T>A
  • LRG_293:g.26802T>A
  • LRG_293p1:p.Ser976Thr
  • NC_000013.10:g.32911418T>A
  • NM_000059.3:c.2926T>A
Protein change:
S976T
Links:
dbSNP: rs144862123
NCBI 1000 Genomes Browser:
rs144862123
Molecular consequence:
  • NM_000059.4:c.2926T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000743279Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely benign
(Jul 28, 2017) 		germlineclinical testing

Citation Link,

SCV001139048Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743279.1

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

From Mendelics, SCV001139048.1

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

Last Updated: Sep 29, 2024