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| Variant ID | 896 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22226492T>C |
| Variant | c.1949T>C |
| Variant Start Position | 1949 |
| Location | Exon 19 |
| Amino Acid Change | p.Leu650Pro |
| ACMG Call | Uncertain Significance |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 32252220, 34011663, 34806794 |
| Article Count | 3 |
| Times Observed | 3-5 |
| Clinical Phenotype | abnormal bone development, genu varum, bowed or bent leg, short stature |
| ACMG Categories | pm2, pp1, pp3 |
| ACMG Explanations | pm2: chrX:22244609 ref:T alt:C was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Likely pathogenic |
| Categories In Literature | pp1 |
| No Contrary Evidence Found | TRUE |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | FALSE |
| Literature Alleles | X-22244609-T-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22244609-T-C |
| Other Alleles | X-22244609-TG-CT X-22244609-TG-CC X-22244609-TG-CA |
| Note | nan |
| Warnings | - |