Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 623 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22221692_22221693del |
| Variant | c.1848del |
| Variant Start Position | 1848 |
| Location | Exon 18 |
| Amino Acid Change | p.Lys616Asnfs*3 |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small deletion |
| PMID | 18625346, 20157195, 34806794 |
| Article Count | 3 |
| Times Observed | 11-20 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22239801 ref:A alt:AAAAC was not found in gnomAD exomes or genomes. chrX:22239805 ref:CA alt:C was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ps4m, ppc, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22239801-A-AAAAC X-22239805-CA-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |