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| Variant ID | 472 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22178333C>T |
| Variant | c.1543C>T |
| Variant Start Position | 1543 |
| Location | Exon 14 |
| Amino Acid Change | p.Gln515* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 26377240, 23079138, 24926462, 21902834, 31927522, 34806794 |
| Article Count | 6 |
| Times Observed | 6-10 |
| Clinical Phenotype | Reduced_TmP/GFR_(<LLN), Other Musculoskeletal Abnormalities, Short Stature, Reduced Serum Phosphate, bone pain, gait disturbance, abnormal dental development, bowed or bent legs, stunted growth, abnormal bone development, osteoporosis |
| ACMG Categories | pvs1, ps2, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22196450 ref:C alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, ps2 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22196450-C-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22196450-C-T |
| Other Alleles | X-22196450-CAG-TAA X-22196450-CAG-TGA |
| Note | nan |
| Warnings | - |