ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) (rs148607710)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494918 SCV000578830 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000163590 SCV000214150 likely benign Hereditary cancer-predisposing syndrome 2014-09-04 criteria provided, single submitter clinical testing
Invitae RCV001086938 SCV000260877 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590259 SCV000333318 uncertain significance not provided 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000302173 SCV000512337 benign not specified 2015-08-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000302173 SCV000600471 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Color RCV000163590 SCV000688697 benign Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590259 SCV000694515 likely benign not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1167G>A (p.Pro389Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect any ESE site. This variant was found in 9/121206 control chromosomes at a frequency of 0.0000743, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Co-occurrences of this variant with another pathogenic variant has been found in one patient in UMD database (BRCA1 c.4065_4068delTCAA/p.Asn1355LysfsX10) and one internally tested patient (CHEK2 c.319+2T>A). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000590259 SCV000885114 likely benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590259 SCV000887750 benign not provided 2018-05-08 criteria provided, single submitter clinical testing

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