NM_000059.4(BRCA2):c.8633-26A>G AND Breast-ovarian cancer, familial 2

Clinical significance:Benign (Last evaluated: Apr 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000113976.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.8633-26A>G]

NM_000059.4(BRCA2):c.8633-26A>G

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.8633-26A>G
Other names:
IVS20-26A>G
HGVS:
  • NC_000013.11:g.32376644A>G
  • NG_012772.3:g.66165A>G
  • NM_000059.4:c.8633-26A>GMANE SELECT
  • LRG_293t1:c.8633-26A>G
  • LRG_293:g.66165A>G
  • NC_000013.10:g.32950781A>G
  • NM_000059.3:c.8633-26A>G
  • NM_000059.4:c.8633-26A>G
  • U43746.1:n.8861-26A>G
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8861-26&base_change=A to G; dbSNP: rs56268579
NCBI 1000 Genomes Browser:
rs56268579
Molecular consequence:
  • NM_000059.4:c.8633-26A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000147422Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Jun 27, 2002)
germlineclinical testing

SCV000267821Michigan Medical Genetics Laboratories,University of Michigancriteria provided, single submitter
Benign
(Apr 21, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
Thai, Chinesegermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Thai, Chinese1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Michigan Medical Genetics Laboratories,University of Michigan, SCV000267821.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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