ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.-7+8A>C

gnomAD frequency: 0.00003  dbSNP: rs1006865074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483845 SCV000572564 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.-7+8A>C or IVS1+8A>C and consists of an A>C nucleotide substitution at the +8 position of intron 1 of the CHEK2 gene. This variant is not predicted to cause abnormal splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. CHEK2 c.-7+8A>C was not observed in the populations of 1000 Genomes. The adenine (A) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether CHEK2 c.-7+8A>C is pathogenic or benign. We consider it to be a variant of uncertain significance.

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