NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Apr 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000083131.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)]

NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)

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.6892G>A (p.Glu2298Lys)
HGVS:
  • NC_000013.11:g.32344608G>A
  • NG_012772.3:g.34129G>A
  • NM_000059.3:c.6892G>A
  • NM_000059.4:c.6892G>AMANE SELECT
  • NP_000050.2:p.Glu2298Lys
  • NP_000050.3:p.Glu2298Lys
  • LRG_293t1:c.6892G>A
  • LRG_293:g.34129G>A
  • LRG_293p1:p.Glu2298Lys
  • NC_000013.10:g.32918745G>A
  • U43746.1:n.7120G>A
Nucleotide change:
7120G>A
Protein change:
E2298K
Links:
dbSNP: rs80358914
NCBI 1000 Genomes Browser:
rs80358914
Molecular consequence:
  • NM_000059.3:c.6892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.6892G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115205Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(May 1, 2012)
germlineclinical testing

SCV000146968Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Jun 20, 2002)
germlineclinical testing

SCV000488459Counsylcriteria provided, single submitter
Uncertain significance
(Apr 1, 2016)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Latin American, Caribbeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

PubMed [citation]
PMID:
22684231
PMCID:
PMC3826381

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115205.3

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

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146968.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Central/Eastern European1not providednot providedclinical testingnot provided
2Latin American, Caribbean1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000488459.1

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

Last Updated: Nov 27, 2021

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