Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 773 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22247861G>T |
| Variant | c.2158G>T |
| Variant Start Position | 2158 |
| Location | Exon 22 |
| Amino Acid Change | p.Ala720Ser |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 28982589, 32511895, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | Bone and/or Joint Pain and/or Joint Stiffness, Tooth Abscesses and/or Excessive Dental Caries |
| ACMG Categories | ps3, pm2, pm6, ppc_het, bp4 |
| ACMG Explanations | pm2: chrX:22265978 ref:G alt:T was not found in gnomAD exomes or genomes. bp4: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is tolerated. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc_het, pm6, ps3 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 28982589: fx/abnormal cellular localization 28982589: assay/immunofluorescence 28982589: method/ plasmid transfection 28982589: model/human cell line, not patient derived 28982589: flg/complete loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22265978-G-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22265978-G-T |
| Other Alleles | X-22265978-GCA-TCG X-22265978-GCA-AGT X-22265978-GCA-TCT X-22265978-GCA-AGC X-22265978-GCA-TCC |
| Note | nan |
| Warnings | - |