ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) (rs28363317)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 19
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119137 SCV000153852 benign Fanconi anemia, complementation group O 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000212950 SCV000171268 benign not specified 2013-10-02 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.
Ambry Genetics RCV000130980 SCV000185897 benign Hereditary cancer-predisposing syndrome 2014-06-27 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000212950 SCV000297363 benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305956 SCV000404323 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341847 SCV000404324 likely benign Breast and Ovarian Cancer Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000119137 SCV000489833 likely benign Fanconi anemia, complementation group O 2016-06-13 criteria provided, single submitter clinical testing
Counsyl RCV000411553 SCV000489834 likely benign Breast-ovarian cancer, familial 3 2016-06-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426921 SCV000511148 likely benign not provided 2016-10-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000130980 SCV000537377 benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212950 SCV000596686 benign not specified 2017-06-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212950 SCV000602149 likely benign not specified 2017-04-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000426921 SCV000692917 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000426921 SCV000699827 benign not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The RAD51C c.859A>G (p.Thr287Ala) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 693/126274 control chromosomes (3 homozygotes) at a frequency of 0.0054881, which is approximately 88 times the estimated maximal expected allele frequency of a pathogenic RAD51C variant (0.0000625), suggesting this variant is likely a benign polymorphism. This variant has been reported in multiple cancer patients (including BrC, OvC, PcC) and some studies reported comparable frequencies of variant in case and controls. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign, without evidence to independently evaluate. Complementation assays of T287A have shown that a normal number of RAD51C foci are formed. Cells survival is reduced by ~36% in chicken DT40 cells, which may not be replicated in mammalian cells or associated with the pathology of HBOC (Meindl_2010). Considering all evidence, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000426921 SCV000807181 likely benign not provided 2016-07-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212950 SCV000854935 benign not specified 2018-08-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000426921 SCV000888606 benign not provided 2018-04-20 criteria provided, single submitter clinical testing
Mendelics RCV000119137 SCV001140725 benign Fanconi anemia, complementation group O 2019-05-28 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130980 SCV000788202 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.