ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3164+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1275882210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572579 SCV000663711 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-30 criteria provided, single submitter clinical testing The c.3164+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 20 in the RAD50 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6499 samples (12998 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 175000 alleles tested) in our clinical cohort. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000572579 SCV001421348 likely benign Hereditary cancer-predisposing syndrome 2023-08-10 criteria provided, single submitter clinical testing

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