NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Nov 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000082907.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)]

NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)

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.3173A>G (p.Lys1058Arg)
HGVS:
  • NC_000013.11:g.32337528A>G
  • NG_012772.3:g.27049A>G
  • NM_000059.3:c.3173A>G
  • NM_000059.4:c.3173A>GMANE SELECT
  • NP_000050.2:p.Lys1058Arg
  • NP_000050.3:p.Lys1058Arg
  • LRG_293t1:c.3173A>G
  • LRG_293:g.27049A>G
  • LRG_293p1:p.Lys1058Arg
  • NC_000013.10:g.32911665A>G
Nucleotide change:
3401A>G
Protein change:
K1058R
Links:
dbSNP: rs431825302
NCBI 1000 Genomes Browser:
rs431825302
Molecular consequence:
  • NM_000059.3:c.3173A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.3173A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000114981Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(May 3, 2012)

History

germlineclinical testing

SCV000785778Counsylcriteria provided, single submitter
Uncertain significance
(Nov 27, 2017)
unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

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

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000114981.3

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

From Counsyl, SCV000785778.2

#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 27, 2021

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