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| Variant ID | 263 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22096976C>T |
| Variant | c.871C>T |
| Variant Start Position | 871 |
| Location | Exon 8 |
| Amino Acid Change | p.Arg291* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 10439971, 9199930, 33358363, 30607568, 23466123, 29460029, 9768674, 32133333, 33639975, 32329911, 11502829, 26040324, 28506344, 11004247, 19219621, 33295632, 29707405, 16636593, 33537138, 22161748, 10874297, 34141703, 27840894, 34806794 |
| Article Count | 24 |
| Times Observed | 30+ |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Short Stature, Cardio Vascular Disease, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Skull Deformities, Vision, genu varum, teeth falling out |
| ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: The allele frequency for chrX:22115094 ref:C alt:T is less than 0.0005 for all populations in gnomAD exomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, pp1, ps4m |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22115094-C-T |
| GnomAD Alleles | X-22115094-C-T |
| DBNSFP Alleles | X-22115094-C-T |
| Other Alleles | X-22115094-CGA-TAG X-22115094-CG-TA |
| Note | nan |
| Warnings | - |