NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Sep 25, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000077675.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe)]

NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe)
HGVS:
  • NC_000013.11:g.32336399A>T
  • NG_012772.3:g.25920A>T
  • NM_000059.3:c.2044A>T
  • NP_000050.2:p.Ile682Phe
  • LRG_293t1:c.2044A>T
  • LRG_293:g.25920A>T
  • LRG_293p1:p.Ile682Phe
  • NC_000013.10:g.32910536A>T
  • p.I682F
Nucleotide change:
2272A>T
Protein change:
I682F
Links:
dbSNP: rs398122738
NCBI 1000 Genomes Browser:
rs398122738
Molecular consequence:
  • NM_000059.3:c.2044A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast 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
SCV000109478Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Sep 25, 2012)
germlineclinical testing

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), SCV000109478.3

#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: Apr 18, 2021

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