ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7977-1G>T (rs81002874)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197791 SCV000253757 pathogenic Hereditary breast and ovarian cancer syndrome 2015-05-01 criteria provided, single submitter clinical testing This sequence change affects a an acceptor splice site in intron 17. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BRCA2 are known to be pathogenic (PMID: 9066272). A different variant affecting this nucleotide has been reported in a patient affected with Breast Cancer (PMID: 23249957, 12474142, 20020529), indicating that this nucleotide may be crucial for normal mRNA splicing. For these reasons, this variant has been classified as Pathogenic.
Color RCV000580992 SCV000683927 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113850 SCV000147238 pathogenic Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing

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