NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 25, 2007
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:
RCV000077719.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg)]

NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg)

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.3995A>G (p.His1332Arg)
HGVS:
  • NC_000013.11:g.32338350A>G
  • NG_012772.3:g.27871A>G
  • NM_000059.4:c.3995A>GMANE SELECT
  • NP_000050.2:p.His1332Arg
  • NP_000050.3:p.His1332Arg
  • LRG_293t1:c.3995A>G
  • LRG_293:g.27871A>G
  • LRG_293p1:p.His1332Arg
  • NC_000013.10:g.32912487A>G
  • NM_000059.3:c.3995A>G
  • p.H1332R
Protein change:
H1332R
Links:
dbSNP: rs398122774
NCBI 1000 Genomes Browser:
rs398122774
Molecular consequence:
  • NM_000059.4:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000109522Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Uncertain significance
(Sep 25, 2007) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109522.2

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

Last Updated: Sep 29, 2024