ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7805+1G>A (rs81002809)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000239169 SCV000073326 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-08-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 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. ClinVar contains an entry for this variant (Variation ID: 52410). 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.
GeneKor MSA RCV000239169 SCV000296831 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077411 SCV000327732 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573701 SCV000665944 pathogenic Hereditary cancer-predisposing syndrome 2018-08-07 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Functionally-validated splicing mutation
Color RCV000573701 SCV000906942 pathogenic Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077411 SCV000109209 pathogenic Breast-ovarian cancer, familial 2 2008-02-13 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077411 SCV000147184 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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