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| Variant ID | 493 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22190457C>T |
| Variant | c.1600C>T |
| Variant Start Position | 1600 |
| Location | Exon 15 |
| Amino Acid Change | p.Pro534Ser |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 28383812, 29460029, 34806794 |
| Article Count | 3 |
| Times Observed | 3-5 |
| Clinical Phenotype | Lower Limb Deformities |
| ACMG Categories | pm2, pm5, pp1, pp3, ppc |
| ACMG Explanations | pm2: chrX:22208574 ref:C alt:T 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 | ppc, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22208574-C-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22208574-C-T |
| Other Alleles | X-22208574-CCG-TCA X-22208574-CCG-AGT X-22208574-CCG-TCC X-22208574-CCG-TCT X-22208574-CCG-AGC |
| Note | nan |
| Warnings | - |