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| Variant ID | 421 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22133588G>C |
| Variant | c.1368G>C |
| Variant Start Position | 1368 |
| Location | Exon 12 |
| Amino Acid Change | p.Trp456Cys |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 29460029, 34806794 |
| Article Count | 2 |
| Times Observed | 3-5 |
| Clinical Phenotype | - |
| ACMG Categories | pm2, pp1, pp3, ppc |
| ACMG Explanations | pm2: chrX:22151705 ref:G alt:T was not found in gnomAD exomes or genomes. chrX:22151705 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 | Uncertain/conflicting |
| Categories In Literature | ppc, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22151705-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22151705-G-T X-22151705-G-C |
| Other Alleles | - |
| Note | nan |
| Warnings | - |