ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.196G>A (p.Val66Met) (rs56026142)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130161 SCV000184996 likely benign Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,In silico models in agreement (benign)
Color RCV000130161 SCV000686426 likely benign Hereditary cancer-predisposing syndrome 2015-11-16 criteria provided, single submitter clinical testing
Counsyl RCV000225779 SCV000489108 uncertain significance Breast-ovarian cancer, familial 4 2016-08-22 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238834 SCV000297127 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000238834 SCV000515953 likely benign not specified 2017-10-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000343326 SCV000401971 uncertain significance Breast and Ovarian Cancer Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000238834 SCV000920125 likely benign not specified 2017-09-19 criteria provided, single submitter clinical testing Variant summary: The RAD51D c.196G>A (p.Val66Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). The variant was found in the control population dataset of gnomAD in 88/277102 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.003975 (75/18868). This frequency is about 32 times the estimated maximal expected allele frequency of a pathogenic RAD51D variant (0.000125), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant has been reported in affected individuals in the literature, without strong evidence for causality (Yurgelun_2017). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000225779 SCV000287700 likely benign Breast-ovarian cancer, familial 4 2017-12-27 criteria provided, single submitter clinical testing

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