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| Variant ID | 662 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22226495G>C |
| Variant | c.1952G>C |
| Variant Start Position | 1952 |
| Location | Exon 19 |
| Amino Acid Change | p.Arg651Pro |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 10439971, 9199930, 32329911, 23079138, 16636593, 24926462, 21902834, 33639975, 25894638, 10874297, 21553362, 34806794 |
| Article Count | 12 |
| Times Observed | 6-10 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, genu varum, bowed or bent leg, coxa vara, arthritis, hip dysplasia |
| ACMG Categories | ps4m, pm2, pp1, pp3, ppc |
| ACMG Explanations | pm2: chrX:22244612 ref:G alt:C 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 |
| Categories In Literature | ppc, ps4m, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22244612-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22244612-G-C |
| Other Alleles | X-22244612-GG-CC X-22244612-GG-CA X-22244612-GG-CT |
| Note | nan |
| Warnings | - |