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NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 28, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000031375.16

Allele description [Variation Report for NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)]

NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)

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.2589T>A (p.Asn863Lys)
HGVS:
  • NC_000013.11:g.32336944T>A
  • NG_012772.3:g.26465T>A
  • NM_000059.4:c.2589T>AMANE SELECT
  • NP_000050.2:p.Asn863Lys
  • NP_000050.3:p.Asn863Lys
  • LRG_293t1:c.2589T>A
  • LRG_293:g.26465T>A
  • LRG_293p1:p.Asn863Lys
  • NC_000013.10:g.32911081T>A
  • NM_000059.3:c.2589T>A
  • U43746.1:n.2817T>A
  • p.N863K
Nucleotide change:
2817T>A
Protein change:
N863K
Links:
dbSNP: rs80358521
NCBI 1000 Genomes Browser:
rs80358521
Molecular consequence:
  • NM_000059.4:c.2589T>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053980Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Benign
(Mar 28, 2012) 		germlineclinical testing

SCV000146076Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided3not providednot provided3not providedclinical testing
Africangermlineyes2not providednot providednot providednot providedclinical testing
African Americangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053980.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided3not providednot providednot providednot providednot provided See 1

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteBRCA2:5047A>G (I1607V)2

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146076.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African2not providednot providedclinical testingnot provided
2African American1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024