NM_000059.3(BRCA2):c.8332-6G>T AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Feb 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000663037.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.8332-6G>T]

NM_000059.3(BRCA2):c.8332-6G>T

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.8332-6G>T
HGVS:
  • NC_000013.11:g.32370396G>T
  • NG_012772.3:g.59917G>T
  • NM_000059.3:c.8332-6G>T
  • LRG_293t1:c.8332-6G>T
  • LRG_293:g.59917G>T
  • NC_000013.10:g.32944533G>T
Links:
dbSNP: rs587780872
NCBI 1000 Genomes Browser:
rs587780872
Molecular consequence:
  • NM_000059.3:c.8332-6G>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000786076Counsylcriteria provided, single submitter
Uncertain significance
(Feb 20, 2018)
unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Counsyl, SCV000786076.2

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

Last Updated: Jun 14, 2021

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