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| Variant ID | 214 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22090447_22090448del |
| Variant | c.682_683del |
| Variant Start Position | 682 |
| Location | Exon 6 |
| Amino Acid Change | p.Ser228Profs*9 |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small deletion |
| PMID | 16636593, 9199930, 33639975, 21553362, 34806794 |
| Article Count | 5 |
| Times Observed | 3-5 |
| Clinical Phenotype | hearing loss, renal calcification, hypothyroidism |
| ACMG Categories | pvs1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22108561 ref:ACT alt:A was not found in gnomAD exomes or genomes. chrX:22108564 ref:C alt:CT was not found in gnomAD exomes or genomes. |
| 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-22108561-ACT-A X-22108564-C-CT |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |