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| Variant ID | 168 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22077521G>C |
| Variant | c.482G>C |
| Variant Start Position | 482 |
| Location | Exon 5 |
| Amino Acid Change | p.Arg161Pro |
| ACMG Call | Likely Pathogenic |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 21050253, 34806794 |
| Article Count | 2 |
| Times Observed | 3-5 |
| Clinical Phenotype | Lower Limb Deformities |
| ACMG Categories | pm2, ppc, bp4 |
| ACMG Explanations | pm2: chrX:22095639 ref:G alt:C was not found in gnomAD exomes or genomes. bp4: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is tolerated. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22095639-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22095639-G-C |
| Other Alleles | X-22095639-GG-CA X-22095639-GG-CT X-22095639-GG-CC |
| Note | nan |
| Warnings | - |