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NM_000059.4(BRCA2):c.521G>A (p.Arg174His) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 1, 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:
RCV000083114.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.521G>A (p.Arg174His)]

NM_000059.4(BRCA2):c.521G>A (p.Arg174His)

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.521G>A (p.Arg174His)
HGVS:
  • NC_000013.11:g.32326503G>A
  • NG_012772.3:g.16024G>A
  • NM_000059.4:c.521G>AMANE SELECT
  • NP_000050.2:p.Arg174His
  • NP_000050.3:p.Arg174His
  • LRG_293t1:c.521G>A
  • LRG_293:g.16024G>A
  • LRG_293p1:p.Arg174His
  • NC_000013.10:g.32900640G>A
  • NM_000059.3:c.521G>A
  • U43746.1:n.749G>A
  • p.R174H
Nucleotide change:
749G>A
Protein change:
R174H
Links:
dbSNP: rs80358747
NCBI 1000 Genomes Browser:
rs80358747
Molecular consequence:
  • NM_000059.4:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000115188Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Benign
(May 1, 2012) 		germlineclinical testing

SCV000147063Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Dec 23, 2003) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Latin American, Caribbean, Venezuelangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115188.3

#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), SCV000147063.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Latin American, Caribbean, Venezuelan1not providednot providedclinical testingnot provided
2Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024