Table 2 Summary of PTCH1 genetic variants close to our study variant described in ClinVar, LOVD, and Simple ClinVar databases at the date of revision (accessed: November 27, 2022)
GRCh38 location | Variation | Variant type | Consequence | Clinical significance (last reviewed) | Condition(s) | Database |
|---|---|---|---|---|---|---|
Chr9:95449826 | NM_000264.5(fTC//7):c.3549+15G>A | SNV | Intronic | Likely benign (Oct 21, 2021) | Gorlin syndrome | ClinVar |
Chr9:95449827 | NM_000264.5(/J7X7f7):c.3549+14C>T | SNV | Intronic | Likely benign (Dec 18,2021) | Gorlin syndrome | ClinVar |
Chr9:95449831 | NM_000264.5(/TC//;):c.3549+10G>C | SNV | Intronic | Likely benign (Jun 24, 2021) | Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449836 | NM_000264.5(P7T//7):c.3549+5G>T | SNV | Intronic | Uncertain significance (Sep 16, 2021) | Gorlin syndrome | ClinVar |
Chr9:95449839–95449840 | NC_000009.11:g.98212121_98212122i nsC | Duplication | Intronic | Pathogenic (Sep 1, 2021) | Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449839 | NM_000264.5(P7Ttfy):c.3549+2T>G | SNV | Splice donor | Pathogenic (Aug 24, 2021) | Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449840 | NM_000264.5(PrCH7):c.3549+1G>A | SNV | Splice donor | Likely pathogenic (May 6, 2019) | Inborn genetic diseases | ClinVar, Simple ClinVar |
Chr9:95449846 | NM_000264.5(PrC///):c.3544C>T (p.Proll82Ser) | SNV | Missense | Uncertain significance (Sep 2, 2021) | Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449846 | NM_000264.5(/jrC///):c.3544C>G (p.Proll82Ala) | SNV | Missense | Uncertain significance (Aug 24, 2021) | Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449847. 95449,850 | NM_000264.5(7jrCH7):c.3540_3543del insTCC (p.TyrllSlfs) | Indel | Frameshift | Pathogenic (Jul 6, 2017) | Gorlin syndrome | ClinVar, Simple ClinVar, LOVD |
Chr9:95449849 | NM_000264.5(P7X7/7):c.3541T>C (p.Tyr!181His) | SNV | Missense | Uncertain significance (Oct 5, 2020) | Hereditary cancer-predisposing syndrome, Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449850 | NM_000264.5(PrC//7):c.3540A>C (p.Proll80=) | SNV | Synonymous | Likely benign (Feb 11,2021) | Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449850 | NM_000264.5(/TC7/y):c.3540A>G (p.Proll80=) | SNV | Synonymous | Likely benign (Feb 2, 2022) | Hereditary cancer-predisposing syndrome, Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449852 | NM_000264.5(P71CH;):c.3538C>G (p.Proll80Ala) | SNV | Missense | Uncertain significance (Sep 1,2021) | Gorlin syndrome | ClinVar |
Chr9:95449856–95449859 | NM_000264.5(P7CW):c.3531_3534del (p.PhellWfs) | Microsatellite | Frameshift | Pathogenic (Aug 20, 2021) | Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449859 | NM_000264.5(P7/Ctf/):c.3531C>T (p.Phell77=) | SNV | Synonymous | Benign/likely benign (Dec 15, 2021) | Hereditary cancer-predisposing syndrome, Gorlin syndrome | ClinVar, Simple ClinVar |
Chr9:95449860 | NM_000264.5(/J7T//7):c.3530del (p.Phell77fs) | Deletion | Frameshift | Pathogenic (Nov 26, 2020) | Gorlin syndrome | ClinVar |