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| Variant ID | 802 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22247942C>T |
| Variant | c.2239C>T |
| Variant Start Position | 2239 |
| Location | Exon 22 |
| Amino Acid Change | p.Arg747* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 10439971, 25839938, 9199930, 23079138, 30607568, 21902834, 26051471, 9768674, 31903094, 15057978, 16055933, 10894185, 25894638, 33639975, 32329911, 11502829, 30682568, 22695891, 24926462, 19219621, 29505567, 21050253, 16636593, 9593714, 12001226, 10874297, 30792871, 30599486, 18162710, 34141703, 33666701, 32253725, 34806794 |
| Article Count | 33 |
| Times Observed | 30+ |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature |
| ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22266059 ref:C alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | pp1, ppc, ps4m |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22266059-C-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22266059-C-T |
| Other Alleles | X-22266059-CGA-TAG X-22266059-CG-TA |
| Note | nan |
| Warnings | - |