ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3247C>T (p.His1083Tyr)

gnomAD frequency: 0.00001  dbSNP: rs768362411
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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 RCV001019423 SCV001180780 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-24 criteria provided, single submitter clinical testing The p.H1083Y variant (also known as c.3247C>T), located in coding exon 21 of the ATM gene, results from a C to T substitution at nucleotide position 3247. The histidine at codon 1083 is replaced by tyrosine, an amino acid with similar properties. In a study of 7051 Japanese patients and 11241 controls, this variant was detected only in the control population with a carrier frequency of 0.0001 (Momozawa Y et al. Nat Commun. 2018 10;9:4083). 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.

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