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| Variant ID | 812 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22248184A>G |
| Variant | c.*231A>G |
| Variant Start Position | 2491 |
| Location | 3' UTR |
| Amino Acid Change | p.? |
| ACMG Call | Likely Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Untranslated region |
| Variant Type | SNV |
| PMID | 31242375, 31910300, 29417983, 31242373, 28982589, 25042154, 31242372, 18625346, 31242376, 31242374, 34806794 |
| Article Count | 11 |
| Times Observed | 30+ |
| Clinical Phenotype | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities |
| ACMG Categories | ps4m, pm2 |
| ACMG Explanations | pm2: chrX:22266301 ref:A alt:G was not found in gnomAD exomes or genomes. chrX:22266216 ref:A alt:G was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic/Likely pathogenic |
| Categories In Literature | ps4m |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22266301-A-G X-22266216-A-G |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |