NM_000059.3(BRCA2):c.5651T>C (p.Ile1884Thr) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Feb 20, 2004)

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:
RCV000113453.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.5651T>C (p.Ile1884Thr)]

NM_000059.3(BRCA2):c.5651T>C (p.Ile1884Thr)

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.5651T>C (p.Ile1884Thr)
HGVS:
  • NC_000013.11:g.32340006T>C
  • NG_012772.3:g.29527T>C
  • NM_000059.3:c.5651T>C
  • NP_000050.2:p.Ile1884Thr
  • LRG_293t1:c.5651T>C
  • LRG_293:g.29527T>C
  • LRG_293p1:p.Ile1884Thr
  • NC_000013.10:g.32914143T>C
  • NM_000059.4:c.5651T>CMANE SELECT
  • U43746.1:n.5879T>C
Protein change:
I1884T
Links:
dbSNP: rs80358788
NCBI 1000 Genomes Browser:
rs80358788
Molecular consequence:
  • NM_000059.3:c.5651T>C - 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
SCV000146656Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146656.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not 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 18, 2021

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