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NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 2, 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:
RCV000077290.15

Allele description [Variation Report for NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)]

NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)

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.3073A>G (p.Lys1025Glu)
Other names:
p.K1025E:AAG>GAG
HGVS:
  • NC_000013.11:g.32337428A>G
  • NG_012772.3:g.26949A>G
  • NM_000059.4:c.3073A>GMANE SELECT
  • NP_000050.2:p.Lys1025Glu
  • NP_000050.3:p.Lys1025Glu
  • LRG_293t1:c.3073A>G
  • LRG_293:g.26949A>G
  • LRG_293p1:p.Lys1025Glu
  • NC_000013.10:g.32911565A>G
  • NM_000059.3:c.3073A>G
  • U43746.1:n.3301A>G
  • p.K1025E
Nucleotide change:
3301A>G
Protein change:
K1025E
Links:
dbSNP: rs80358550
NCBI 1000 Genomes Browser:
rs80358550
Molecular consequence:
  • NM_000059.4:c.3073A>G - 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
SCV000109087Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Benign
(Mar 2, 2012) 		germlineclinical testing

SCV000146164Breast 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 providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109087.2

#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), SCV000146164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
2Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided
2germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 24, 2024