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NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Sep 1, 2023
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:
RCV000083151.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp)]

NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp)

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.9006A>T (p.Glu3002Asp)
Other names:
p.E3002D:GAA>GAT
HGVS:
  • NC_000013.11:g.32379802A>T
  • NG_012772.3:g.69323A>T
  • NM_000059.4:c.9006A>TMANE SELECT
  • NP_000050.2:p.Glu3002Asp
  • NP_000050.3:p.Glu3002Asp
  • LRG_293t1:c.9006A>T
  • LRG_293:g.69323A>T
  • LRG_293p1:p.Glu3002Asp
  • NC_000013.10:g.32953939A>T
  • NM_000059.3:c.9006A>T
  • U43746.1:n.9234A>T
  • p.E3002D
Nucleotide change:
9234A>T
Protein change:
E3002D
Links:
dbSNP: rs80359153
NCBI 1000 Genomes Browser:
rs80359153
Molecular consequence:
  • NM_000059.4:c.9006A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115225Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Likely benign
(Jul 13, 2012)
germlineclinical testing

SCV000147511Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(May 29, 2002)
germlineclinical testing

SCV004228457Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Uncertain significance
(Sep 1, 2023)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided3not providednot provided3not providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing
Western, Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115225.3

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

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147511.1

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

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228457.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

PM2(Supporting)+PP3(Supporting)+BP5(Supporting) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024