ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8632+1G>A (rs397507997)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000238926 SCV001161648 pathogenic Breast-ovarian cancer, familial 2 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.998093
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000238926 SCV000327932 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000584092 SCV000689141 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-17 criteria provided, single submitter clinical testing
Invitae RCV001383610 SCV001582819 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 20 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in families affected with breast cancer (PMID: 12601471). This variant is also known as IVS20+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 52638). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16211554, 24212087, 29774201, 30101128). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV001646823 SCV001854406 pathogenic Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2013-12-01 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000238926 SCV000297570 likely pathogenic Breast-ovarian cancer, familial 2 2009-06-03 no assertion criteria provided clinical testing

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