Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 810 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22247953G>C |
| Variant | c.2250G>C |
| Variant Start Position | 2250 |
| Location | Exon 22 |
| Amino Acid Change | p.*750Tyrext*9 |
| ACMG Call | Likely Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Extension |
| Variant Type | SNV |
| PMID | 26051471, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pm2, ppc |
| ACMG Explanations | pm2: No extension variants were found in gnomAD exomes or genomes at this position. |
| 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 | - |
| Other Alleles | - |
| Note | nan |
| Warnings | Could not get protein pos and ref for variant id: phex:X750ext. |