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| Variant ID | 712 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22227605T>A |
| Variant | c.2064T>A |
| Variant Start Position | 2064 |
| Location | Exon 20 |
| Amino Acid Change | p.Tyr688* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Conflict | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 10439971, 23079138, 16636593, 24926462, 34806794 |
| Article Count | 5 |
| Times Observed | 3-5 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Bone and/or joint pain and/or joint stiffness |
| ACMG Categories | pvs1, pm2, ppc, bs4 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22245722 ref:T alt:G was not found in gnomAD exomes or genomes. chrX:22245722 ref:T alt:A was not found in gnomAD exomes or genomes. chrX:22245716 ref:G alt:GAGTT was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | bs4, ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22245722-T-A X-22245716-G-GAGTT |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22245722-T-G X-22245722-T-A |
| Other Alleles | X-22245721-AT-GA |
| Note | nan |
| Warnings | - |