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| Variant ID | 288 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22099019G>T |
| Variant | c.947G>T |
| Variant Start Position | 947 |
| Location | Exon 9 |
| Amino Acid Change | p.Gly316Val |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 25861491, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities |
| ACMG Categories | pm2, pp1, bp4 |
| ACMG Explanations | pm2: The allele frequency for chrX:22117137 ref:G alt:T is less than 0.0005 for all populations in gnomAD exomes. bp4: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is tolerated. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | 3.30E-05 |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22117137-G-T |
| GnomAD Alleles | X-22117137-G-T |
| DBNSFP Alleles | X-22117137-G-T |
| Other Alleles | X-22117137-GC-TA X-22117137-GC-TG X-22117137-GC-TT |
| Note | nan |
| Warnings | - |