ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) (rs140317560)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000587212 SCV000149718 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25980754, 27720647, 25186627)
Ambry Genetics RCV000115809 SCV000184441 likely benign Hereditary cancer-predisposing syndrome 2018-05-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence;Subpopulation frequency in support of benign classification
Invitae RCV000204912 SCV000262142 benign Breast-ovarian cancer, familial 4 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000587212 SCV000333811 uncertain significance not provided 2015-09-11 criteria provided, single submitter clinical testing
Counsyl RCV000204912 SCV000488969 uncertain significance Breast-ovarian cancer, familial 4 2016-07-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587212 SCV000602153 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587212 SCV000698091 likely benign not provided 2017-03-16 criteria provided, single submitter clinical testing Variant summary: The RAD51D c.146C>T (p.Ala49Val) variant involves the alteration of a conserved nucleotide and 2/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome. The variant of interest is also located at the second 5' position of exon 3 and thus could affect splicing, which 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 45/120782 (1/2683), predominantly in the African cohort, 43/10248 (1/238), which exceeds the estimated maximal expected allele frequency for a pathogenic RAD51D variant of 1/8000. Therefore, suggesting this variant is likely a benign polymorphism found primarily in population(s) of African origin. A publication cites the variant in one affected individual diagnosed with Lynch syndrome-associated cancer and/or polyps, however, with limited information (ie, lack of cosegregation data). In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/uncertain significance. Taken together, this variant is classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000587212 SCV000806575 likely benign not provided 2017-06-07 criteria provided, single submitter clinical testing
Mendelics RCV000709452 SCV000839196 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000115809 SCV000910673 benign Hereditary cancer-predisposing syndrome 2015-11-05 criteria provided, single submitter clinical testing

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