ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+1420A>C (rs397507196)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131694 SCV000186730 likely benign Hereditary cancer-predisposing syndrome 2016-05-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
GeneDx RCV000120271 SCV000512292 likely benign not specified 2016-12-05 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 RCV000589110 SCV000560220 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120271 SCV000602705 likely benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589110 SCV000698928 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing Variant summary: The variant c.2207A>C affects a non-conserved nucleotide, resulting in amino acid change from Glu to Ala. 3/4 in-silico tools predict this variant to be benign. This variant was not found in approximately 121324 control chromosomes from large and broad populations of ExAC. It has been reported in two unrelated individuals undergoing BRCA1/2 screening (one known to be affected), however without strong evidence for causality. Based on the characteristics of breast or ovarian tumor carrying this variant and/or multifactorial probability model, this variant has been reported to be neutral/likely benign (Spearman_2008; Lindor_2012). Two clinical labs as well as one reputable database classify this variant as benign/likely benign. Taken together, this variant has currently been classified as VUS-possibly benign.
Color RCV000131694 SCV000911191 benign Hereditary cancer-predisposing syndrome 2016-01-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589110 SCV001133519 likely benign not provided 2018-10-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031036 SCV000053630 benign Breast-ovarian cancer, familial 1 2012-02-01 no assertion criteria provided clinical testing
ITMI RCV000120271 SCV000084423 not provided not specified 2013-09-19 no assertion provided reference population

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