ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3037-3T>C (rs115737081)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129167 SCV000183900 benign Hereditary cancer-predisposing syndrome 2014-12-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000129167 SCV000262357 benign Hereditary cancer-predisposing syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000412003 SCV000488552 benign Nijmegen breakage syndrome-like disorder 2016-06-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780657 SCV000918113 benign not specified 2018-02-26 criteria provided, single submitter clinical testing Variant summary: RAD50 c.3037-3T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0019 in 120906 control chromosomes, predominantly at a frequency of 0.02 within the African or African-American subpopulation in the ExAC database, including 5 homozygotes. The observed variant frequency within African or African-American control individuals in the ExAC database is approximately 319.99 fold of the estimated maximal expected allele frequency for a pathogenic variant in RAD50 causing Hereditary Breast and Ovarian Cancer phenotype (6.3e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.

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