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| Variant ID | 914 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22245350C>A |
| Variant | c.2088C>A |
| Variant Start Position | 2088 |
| Location | Exon 21 |
| Amino Acid Change | p.Tyr696* |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 32329911, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, ps2, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22263467 ref:C alt:G was not found in gnomAD exomes or genomes. chrX:22263467 ref:C alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc, ps2 |
| No Contrary Evidence Found | TRUE |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | FALSE |
| Literature Alleles | X-22263467-C-G |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22263467-C-G X-22263467-C-A |
| Other Alleles | X-22263466-AC-GA |
| Note | nan |
| Warnings | - |