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| Variant ID | 804 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22247947_22247948del |
| Variant | c.2244_2245del |
| Variant Start Position | 2244 |
| Location | Exon 22 |
| Amino Acid Change | p.Trp749Valfs*44 |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small deletion |
| PMID | 28383812, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Lower Limb Deformities |
| ACMG Categories | pvs1, ps2, pm2, ppc_het |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: No frameshift variants were found in gnomAD exomes or genomes at this position. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc_het, ps2, pp3 |
| 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 | - |