ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.793+2T>G

dbSNP: rs886040942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258351 SCV000327765 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001055989 SCV001220406 pathogenic Hereditary breast ovarian cancer syndrome 2020-07-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 is not present in population databases (ExAC no frequency). This variant has been observed in a family with high risk of breast and/or ovarian cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 267687). Experimental studies have shown that disruption of this splice site affects mRNA splicing (PMID: 30883759). 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).
Myriad Genetics, Inc. RCV000258351 SCV004932397 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2024-02-06 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
Laboratory for Genotyping Development, RIKEN RCV003165716 SCV002758120 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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