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| Variant ID | 50 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22038501C>T |
| Variant | c.151C>T |
| Variant Start Position | 151 |
| Location | Exon 2 |
| Amino Acid Change | p.Gln51* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 25839938, 11502829, 31485552, 9097956, 16636593, 34806794 |
| Article Count | 6 |
| Times Observed | 6-10 |
| Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities |
| ACMG Categories | pvs1, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22056619 ref:C alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | pp1, ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22056619-C-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22056619-C-T |
| Other Alleles | X-22056619-CAG-TGA X-22056619-CAG-TAA |
| Note | nan |
| Warnings | - |