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| Variant ID | 417 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22133583G>T |
| Variant | c.1363G>T |
| Variant Start Position | 1363 |
| Location | Exon 12 |
| Amino Acid Change | p.Glu455* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 10439971, 23079138, 16636593, 24926462, 22261628, 18162710, 30599486, 34806794 |
| Article Count | 8 |
| Times Observed | 6-10 |
| Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22151700 ref:G alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ps4m, ppc, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22151700-G-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22151700-G-T |
| Other Alleles | X-22151700-GAG-TAA X-22151700-GAG-TGA |
| Note | nan |
| Warnings | - |