Variant details: 22 29091857 G/- (GRCH37)
| GRCH37 genomic region | 22:29091857-29091857 |
|---|---|
| GRCH38 genomic region | 22:28695869-28695869 |
| Gene(s) | CHEK2 (- strand) |
| HGVSc | c.1100del (NM_007194.4 ) |
| HGVSp | p.(Thr367Metfs*15) |
| Reference sequence | TCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAA |
| Non-cancer gnomAD AF | 0.00205158 0.00205158 |
| Custom-max gnomAD AF | 0.00257219 |
| Existing variants | rs555607708,CD993415,COSV60419771 |
| PubMed | 25741868 27365426 26845104 28779002 23469205 24884479 11479205 30947698 10617473 12533788 15492928 17085682 15122511 18172190 19338683 21807500 22058428 22994785 28514723 31085772 30833417 16257342 15466005 11967536 12690581 12094328 |
| Synonyms | ClinVar::RCV000212447,RCV000210137,RCV000123265,RCV000115980,RCV000515188,RCV000500025,RCV000488416,RCV000413386,RCV000005934,RCV000005932,VCV000128042,RCV000785429,RCV000761147,RCV000761109,RCV000735378,RCV000615743,RCV000591014,RCV000587467,RCV001197409,RCV001000041 OMIM::604373.0001 PhenCode::KinMutBase_CHEK2_DNA:g.49841delC COSMIC::COSM5967258 |
| Expert group classification | |
| ClinVar classification |
Pathogenic
criteria provided, multiple submitters, no conflicts
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant
This variant was found in .. individuals:
Transcripts