ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.645A>G (p.Ala215=)

gnomAD frequency: 0.00001  dbSNP: rs761630560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777675 SCV000913594 likely benign Hereditary cancer-predisposing syndrome 2018-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001481778 SCV001686128 likely benign Familial cancer of breast 2021-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777675 SCV005106997 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-30 criteria provided, single submitter clinical testing The c.645A>G variant (also known as p.A215A), located in coding exon 4 of the CHEK2 gene, results from an A to G substitution at nucleotide position 645. This nucleotide substitution does not change the alanine at codon 215. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Myriad Genetics, Inc. RCV001481778 SCV005896032 benign Familial cancer of breast 2024-10-03 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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