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| Variant ID | 788 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22247895T>C |
| Variant | c.2192T>C |
| Variant Start Position | 2192 |
| Location | Exon 22 |
| Amino Acid Change | p.Phe731Ser |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 23813354, 22713460, 29901142, 24857004, 27840894, 34141703, 34806794 |
| Article Count | 7 |
| Times Observed | 6-10 |
| Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities, genu varum |
| ACMG Categories | pm2, pm5, pp1, pp3 |
| ACMG Explanations | pm2: chrX:22266012 ref:T alt:C was not found in gnomAD exomes or genomes. pm5: This is a missense variant at an amino acid residue where a different missense change has been established as pathogenic. 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 | pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22266012-T-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22266012-T-C |
| Other Alleles | X-22266012-TT-CC X-22266011-TTT-AGC X-22266012-TT-CA X-22266012-TT-CG X-22266011-TT-AG |
| Note | nan |
| Warnings | - |