ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.-12T>C (rs276174795)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586575 SCV000694530 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.-12T>C variant involves the alteration of a non-conserved nucleotide located in the 5'-UTR. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 119378 control chromosomes. The variant has been reported in one patient in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as VUS until additional evidence becomes available.
Color RCV000776392 SCV000911859 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-30 criteria provided, single submitter clinical testing
Invitae RCV000586575 SCV001118217 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112999 SCV000145984 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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