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| Variant ID | 98 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047116G>C |
| Variant | c.254G>C |
| Variant Start Position | 254 |
| Location | Exon 3 |
| Amino Acid Change | p.Cys85Ser |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 30682568, 32329911, 34806794 |
| Article Count | 3 |
| Times Observed | 3-5 |
| Clinical Phenotype | bowed or bent legs, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature |
| ACMG Categories | pm2, pm5, pp3, ppc |
| ACMG Explanations | pm2: chrX:22065233 ref:T alt:A was not found in gnomAD exomes or genomes. chrX:22065234 ref:G alt:C was not found in gnomAD exomes or genomes. pm5: This is a missense variant at an amino acid residue where a different missense change has been established as pathogenic. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Likely pathogenic |
| Categories In Literature | ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22065233-T-A X-22065234-G-C |
| Other Alleles | X-22065233-TGT-AGC X-22065234-GT-CA X-22065234-GT-CC X-22065234-GT-CG |
| Note | nan |
| Warnings | - |