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NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
May 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000112824.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)]

NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)

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.9925G>A (p.Glu3309Lys)
Other names:
p.E3309K:GAA>AAA
HGVS:
  • NC_000013.11:g.32398438G>A
  • NG_012772.3:g.87959G>A
  • NM_000059.4:c.9925G>AMANE SELECT
  • NP_000050.2:p.Glu3309Lys
  • NP_000050.3:p.Glu3309Lys
  • LRG_293t1:c.9925G>A
  • LRG_293:g.87959G>A
  • LRG_293p1:p.Glu3309Lys
  • NC_000013.10:g.32972575G>A
  • NM_000059.3:c.9925G>A
  • U43746.1:n.10153G>A
  • p.E3309K
Nucleotide change:
10153G>A
Protein change:
E3309K
Links:
dbSNP: rs80359251
NCBI 1000 Genomes Browser:
rs80359251
Molecular consequence:
  • NM_000059.4:c.9925G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145732Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Dec 23, 2003) 		germlineclinical testing

SCV000297582Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Benign
(Dec 17, 2009) 		germlineclinical testing

SCV001139279Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Latin American, Caribbeangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145732.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
2Latin American, Caribbean2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided
2germlineyesnot providednot providednot provided2not providednot providednot provided

From Sharing Clinical Reports Project (SCRP), SCV000297582.1

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

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteBRCA2:802delAT1

From Mendelics, SCV001139279.1

#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: Nov 3, 2024