ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2915A>G (p.Tyr972Cys)

dbSNP: rs1581004729
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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 RCV001016920 SCV001177926 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing The p.Y972C variant (also known as c.2915A>G), located in coding exon 18 of the RAD50 gene, results from an A to G substitution at nucleotide position 2915. The tyrosine at codon 972 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001016920 SCV002305020 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 821970). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 972 of the RAD50 protein (p.Tyr972Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine.

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