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NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
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:
RCV000077701.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val)]

NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val)

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.2981C>T (p.Ala994Val)
Other names:
p.A994V:GCA>GTA
HGVS:
  • NC_000013.11:g.32337336C>T
  • NG_012772.3:g.26857C>T
  • NM_000059.4:c.2981C>TMANE SELECT
  • NP_000050.2:p.Ala994Val
  • NP_000050.3:p.Ala994Val
  • LRG_293t1:c.2981C>T
  • LRG_293:g.26857C>T
  • LRG_293p1:p.Ala994Val
  • NC_000013.10:g.32911473C>T
  • NM_000059.3:c.2981C>T
  • p.A994V
Nucleotide change:
3209C>T
Protein change:
A994V
Links:
dbSNP: rs398122758
NCBI 1000 Genomes Browser:
rs398122758
Molecular consequence:
  • NM_000059.4:c.2981C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000109504Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Uncertain significance
(May 1, 2012) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided2not providednot provided2not providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109504.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024