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NM_000059.4(BRCA2):c.2538A>G (p.Ser846=) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (2 submissions)
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:
RCV000113058.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.2538A>G (p.Ser846=)]

NM_000059.4(BRCA2):c.2538A>G (p.Ser846=)

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.2538A>G (p.Ser846=)
Other names:
S846S
HGVS:
  • NC_000013.11:g.32336893A>G
  • NG_012772.3:g.26414A>G
  • NM_000059.4:c.2538A>GMANE SELECT
  • NP_000050.2:p.Ser846=
  • NP_000050.3:p.Ser846=
  • LRG_293t1:c.2538A>G
  • LRG_293:g.26414A>G
  • LRG_293p1:p.Ser846=
  • NC_000013.10:g.32911030A>G
  • NM_000059.3:c.2538A>G
  • U43746.1:n.2766A>G
Links:
dbSNP: rs11571654
NCBI 1000 Genomes Browser:
rs11571654
Molecular consequence:
  • NM_000059.4:c.2538A>G - synonymous variant - [Sequence Ontology: SO:0001819]
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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000146065Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Benign
(Sep 18, 2010) 		germlineclinical testing

SCV000578959Evidence-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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Indiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146065.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578959.2

#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 1, 2024