ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9605C>T (p.Pro3202Leu) (rs397507432)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196044 SCV000253063 likely benign Hereditary breast and ovarian cancer syndrome 2020-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000216276 SCV000275485 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-08 criteria provided, single submitter clinical testing The p.P3202L variant (also known as c.9605C>T), located in coding exon 25 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9605. The proline at codon 3202 is replaced by leucine, an amino acid with similar properties. This variant was reportedly detected in conjunction with a pathogenic mutation in the BRCA2 gene in two separate cases recorded in the Universal Mutation Database (; however, the phase (whether in cis or trans) is not known, nor are the case phenotypes. 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.
Counsyl RCV000031837 SCV000488573 uncertain significance Breast-ovarian cancer, familial 2 2016-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000436771 SCV000527617 likely benign not specified 2016-05-09 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.
Color Health, Inc RCV000216276 SCV000911442 benign Hereditary cancer-predisposing syndrome 2016-10-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000436771 SCV000916937 uncertain significance not specified 2017-09-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9605C>T (p.Pro3202Leu) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 1/246194 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been shown in functional studies to have no impact on splicing (Houdayer_2012). One reputable database reported two co-occurrences of this variant and a BRCA2 pathogenic variant (BRAC Share). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign and VUS, without evidence for independent evaluation. Taken together, this variant is classified as VUS.
Sharing Clinical Reports Project (SCRP) RCV000031837 SCV000054445 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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