ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) (rs1554099776)

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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 RCV000562607 SCV000663606 pathogenic Hereditary cancer-predisposing syndrome 2018-07-18 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 Praxis fuer Humangenetik Tuebingen RCV001091585 SCV001247717 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Invitae RCV000562607 SCV001396853 pathogenic Hereditary cancer-predisposing syndrome 2020-08-14 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 480391). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.
CZECANCA consortium RCV001271002 SCV001451814 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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