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| Variant ID | 921 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22247901 |
| Variant | c.? |
| Variant Start Position | 2199 |
| Location | Exon 22 |
| Amino Acid Change | p.Cys733Arg |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 29933856, 29735309, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | ps3, pm2, pp1, pp3 |
| ACMG Explanations | pm2: chrX:22266017 ref:T 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 | No |
| ClinVar Classification | - |
| Categories In Literature | pp1, ps3 |
| No Contrary Evidence Found | TRUE |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | 29735309: fx/upregulation of secondary protein 29735309: assay/real-time quantitative pcr 29735309: model/live mouse model 29735309: flg/gain of function 22527485: model/live mouse model |
| hg19 Mapping Failed | FALSE |
| Literature Alleles | X-22266017-T-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22266017-T-C |
| Other Alleles | X-22266017-TGT-CGA X-22266017-TGT-CGG X-22266017-TGT-AGG X-22266017-TGT-CGC X-22266017-TGT-AGA |
| Note | cDNA is not provided |
| Warnings | - |