ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2260_2266del (p.Leu754fs)

dbSNP: rs864622393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205373 SCV000260451 pathogenic Hereditary cancer-predisposing syndrome 2021-12-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 220136). This premature translational stop signal has been observed in individual(s) with undergoing testing for personal or family history of breast and/or ovarian cancer (PMID: 31159747). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu754Metfs*9) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520).
GeneKor MSA RCV000205373 SCV000821774 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a seven base pair deletion from exon 14 of the RAD50 mRNA, causing a frameshift at codon 754 and this creates a premature translational stop signal. This is expected to result in an absent or disrupted protein product. Truncating variants in RAD50 are known to be pathogenic (PMID:19409520, 16385572). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).The mutation database ClinVar contains entries for this variant (Variation ID:220136).

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