ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) (rs147366706)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656960 SCV000149843 uncertain significance not provided 2014-02-21 criteria provided, single submitter clinical testing RAD50 has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted RAD50 c.1534G>T at the cDNA level, p.Ala512Ser (A512S) at the protein level, and results in the change of an Alanine to a Serine (GCA>TCA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD50 Ala512Ser was observed with an allele frequency of 0.7% in Africans in 1000 Genomes and 0.3% in African Americans in the NHLBI Exome Sequencing Project. This variant is a non-conservative substitution in which a neutral non-polar amino acid is replaced with a neutral polar one, altering a position that is moderately conserved throughout evolution and is located in the coiled coil domain (UniProt). In silico analyses predict this variant to have a benign effect on protein structure and function. On a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the RAD50 gene, remain unclear.
Ambry Genetics RCV000115934 SCV000184041 likely benign Hereditary cancer-predisposing syndrome 2017-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Invitae RCV000656960 SCV000254879 likely benign not provided 2019-03-03 criteria provided, single submitter clinical testing
Vantari Genetics RCV000115934 SCV000267084 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000409459 SCV000488868 uncertain significance Nijmegen breakage syndrome-like disorder 2016-07-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212910 SCV000596680 uncertain significance not specified 2016-04-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000656960 SCV000861416 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing

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