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| Variant ID | 793 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22247901G>C |
| Variant | c.2198G>C |
| Variant Start Position | 2198 |
| Location | Exon 22 |
| Amino Acid Change | p.Cys733Ser |
| ACMG Call | Uncertain Significance |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 10439971, 23079138, 16636593, 24926462, 29610183, 34806794 |
| Article Count | 6 |
| Times Observed | 3-5 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Skull Deformities |
| ACMG Categories | pm2, pm6, pp3, ppc |
| ACMG Explanations | pm2: chrX:22266018 ref:G alt:C was not found in gnomAD exomes or genomes. chrX:22266017 ref:T alt:A was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, pm6 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22266018-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22266018-G-C X-22266017-T-A |
| Other Alleles | X-22266018-GT-CG X-22266018-GT-CC X-22266017-TGT-AGC X-22266018-GT-CA |
| Note | nan |
| Warnings | - |