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| Variant ID | 518 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22212904G>C |
| Variant | c.1646G>C |
| Variant Start Position | 1646 |
| Location | Exon 15 - 16 |
| Amino Acid Change | p.Arg549Pro |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 22577109, 25839938, 18625346, 34806794 |
| Article Count | 4 |
| Times Observed | 6-10 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Short Stature |
| ACMG Categories | pm2, pp1, ppc |
| ACMG Explanations | pm2: chrX:22231021 ref:G alt:C was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | pp1, ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22231021-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22231021-G-C |
| Other Alleles | X-22231021-GA-CG X-22231021-GA-CT X-22231021-GA-CC |
| Note | nan |
| Warnings | - |