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| Variant ID | 171 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22077535C>T |
| Variant | c.496C>T |
| Variant Start Position | 496 |
| Location | Exon 5 |
| Amino Acid Change | p.Arg166Cys |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 10439971, 11502829, 23079138, 16636593, 24926462, 34806794 |
| Article Count | 6 |
| Times Observed | < 3 |
| Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pm2, pp3, ppc |
| ACMG Explanations | pm2: The allele frequency for chrX:22095653 ref:C alt:T is less than 0.0005 for all populations in gnomAD exomes. 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 | ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | 1.65E-05 |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22095653-C-T |
| GnomAD Alleles | X-22095653-C-T |
| DBNSFP Alleles | X-22095653-C-T |
| Other Alleles | X-22095653-CGC-TGT |
| Note | nan |
| Warnings | - |