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| Variant ID | 558 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22219049G>A |
| Variant | c.1714G>A |
| Variant Start Position | 1714 |
| Location | Exon 17 |
| Amino Acid Change | p.Gly572Ser |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 30238432, 32329911, 34806794 |
| Article Count | 3 |
| Times Observed | 6-10 |
| Clinical Phenotype | bowed or bent legs, Lower Limb Deformities, Fractures/Pseudo-Fractures |
| ACMG Categories | pm2, pp3, ppc |
| ACMG Explanations | pm2: chrX:22237166 ref:G 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/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-22237166-G-A |
| Other Alleles | X-22237166-GG-TC X-22237166-GGT-TCC X-22237166-GGT-TCA X-22237166-GGT-AGC X-22237166-GGT-TCG |
| Note | nan |
| Warnings | - |