ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg) (rs80357500)

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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 RCV000131512 SCV000186505 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-07 criteria provided, single submitter clinical testing The p.P1315R variant (also known as c.3944C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 3944. The proline at codon 1315 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Michigan Medical Genetics Laboratories,University of Michigan RCV000083042 SCV000267707 uncertain significance Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000424747 SCV000528363 likely benign not specified 2017-08-09 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 RCV000469729 SCV000549277 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-05 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131512 SCV000688458 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424747 SCV000699087 uncertain significance not specified 2020-09-14 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.3944C>G (p.Pro1315Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251214 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3944C>G in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported in the literature. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (likely benign, n=2; uncertain significance, n=4). Based on the evidence outlined above, the variant was classified as uncertain significance.
Counsyl RCV000083042 SCV000786126 uncertain significance Breast-ovarian cancer, familial 1 2018-02-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284394 SCV001470169 uncertain significance not provided 2020-06-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083042 SCV000115116 likely benign Breast-ovarian cancer, familial 1 2011-02-10 no assertion criteria provided clinical testing

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