ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.81-13C>A (rs56328013)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159855 SCV000209899 likely benign not specified 2017-12-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000206808 SCV000259494 benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000159855 SCV000602727 likely benign not specified 2017-02-21 criteria provided, single submitter clinical testing
Color RCV000580970 SCV000683363 likely benign Hereditary cancer-predisposing syndrome 2016-10-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586475 SCV000699307 likely benign not provided 2016-10-18 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.81-13C>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. Even though 4/4 splice prediction tools predict loss/weakening effect on the canonical splicing acceptor site, multiple functional studies show the variant does not affect splicing. This variant was found in 7/101956 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0008024 (7/8724). The variant of interest has been reported in an affected individual via a publication without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Moreover, this variant has been reported in two samples with co-occurrence of a BRCA2 pathogenic variant c.1310_1313delAAGA/p.Lys437IlefsX22 and a BRCA1 likely pathogenic variant c.5165C>T/p.Ser1722Phe, respectively, further supporting the benign classification of this variant. Taken together, this variant is classified as likely benign.
Sharing Clinical Reports Project (SCRP) RCV000031281 SCV000053886 benign Breast-ovarian cancer, familial 1 2008-03-11 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031281 SCV000144220 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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