ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1260-6del (rs878854912)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000480678 SCV000289653 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Counsyl RCV000228232 SCV000489180 likely benign Familial cancer of breast 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000480678 SCV000566727 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.1260-6delA or IVS11-6delA and consists of a deletion of one nucleotide at the -6 position of intron 11 of the CHEK2 gene. The normal sequence with the base that is deleted in brackets is caat[dela]ttaa. CHEK2 c.1260-6delA was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The adenine (A) nucleotide that is altered is not conserved. This intronic variant has the potential to cause abnormal gene splicing, but in silico splicing models are uninformative. Therefore, based on currently available information, it is unclear whether CHEK2 c.1260-6delA is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000771321 SCV000903588 likely benign Hereditary cancer-predisposing syndrome 2017-03-01 criteria provided, single submitter clinical testing

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