ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter)

gnomAD frequency: 0.00001  dbSNP: rs1554099776
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562607 SCV000663606 pathogenic Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing The p.W1017* pathogenic mutation (also known as c.3050G>A), located in coding exon 20 of the RAD50 gene, results from a G to A substitution at nucleotide position 3050. This changes the amino acid from a tryptophan to a stop codon within coding exon 20. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
CeGaT Center for Human Genetics Tuebingen RCV001091585 SCV001247717 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000562607 SCV001396853 pathogenic Hereditary cancer-predisposing syndrome 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1017*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 480391). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470837 SCV004209744 likely pathogenic Nijmegen breakage syndrome-like disorder 2021-05-18 criteria provided, single submitter clinical testing
CZECANCA consortium RCV001271002 SCV001451814 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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