ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3109G>A (p.Glu1037Lys)

dbSNP: rs876658612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217790 SCV000274097 uncertain significance Hereditary cancer-predisposing syndrome 2015-02-26 criteria provided, single submitter clinical testing The p.E1037K variant (also known as c.3109G>A), located in coding exon 20 of the RAD50 gene, results from a G to A substitution at nucleotide position 3109. The glutamic acid at codon 1037 is replaced by lysine, an amino acid with similar properties. 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 6501 samples (13002 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 40000 alleles tested) in our clinical cohort. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.E1037K remains unclear.

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