ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.793+1G>A (rs81002846)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568255 SCV000665937 likely pathogenic Hereditary cancer-predisposing syndrome 2017-10-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Rarity in general population databases (dbsnp, esp, 1000 genomes),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without splicing assay data in support of pathogenicity
Breast Cancer Information Core (BIC) (BRCA2) RCV000112827 SCV000145738 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000568255 SCV000689081 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112827 SCV000327763 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045345 SCV000591712 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
GeneKor MSA RCV000239312 SCV000296840 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000045345 SCV000073358 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-09-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a BRCA2-related disease, but has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033) and the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 52437). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in BRCA2 are known to be pathogenic (PMID: 20104584). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Mendelics RCV000045345 SCV000838747 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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