ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala) (rs80357241)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164214 SCV000214835 likely benign Hereditary cancer-predisposing syndrome 2018-03-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174629 SCV001337835 likely benign not specified 2020-01-20 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5416C>G (p.Pro1806Ala) results in a non-conservative amino acid change located in the BRCT domain (IPR001357) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251484 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5416C>G has been reported in the literature in an individual affected with Hereditary Breast and Ovarian Cancer (Shattuck-Eidens_1997). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Various functional studies carried out to assess a number of different properties of the variant protein including, transcriptional activity, protein folding, phosphopeptide-binding and thermodynamic stability, all demonstrated the variant to cause no defect and be similar to the wild-type (Carvalho_2007, Coyne_2004, Hayes_2000, Lee_2010, Rowling_2010). A ClinVar submitter (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Color Health, Inc RCV000164214 SCV001352269 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283908 SCV001469396 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Invitae RCV001419359 SCV001621611 likely benign Hereditary breast and ovarian cancer syndrome 2020-04-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112648 SCV000145505 uncertain significance Breast-ovarian cancer, familial 1 1997-11-14 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112648 SCV001242741 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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