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| Variant ID | 571 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22219071G>T |
| Variant | c.1736G>T |
| Variant Start Position | 1736 |
| Location | Exon 17 |
| Amino Acid Change | p.Gly579Val |
| ACMG Call | Likely Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 10439971, 11502829, 23079138, 16636593, 24926462, 12727977, 34806794 |
| Article Count | 7 |
| Times Observed | 3-5 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | ps3, pm2, pp3, ppc |
| ACMG Explanations | pm2: chrX:22237188 ref:G alt:T 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 | ps3, ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 12727977: fx/abnormal cellular localization 12727977: assay/western blot 12727977: method/site-directed mutagenesis 12727977: method/calcium-phosphate coprecipitation 12727977: model/human cell line, not patient derived 12727977: flg/partial loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22237188-G-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22237188-G-T |
| Other Alleles | X-22237188-GA-TG X-22237188-GA-TT X-22237188-GA-TC |
| Note | nan |
| Warnings | - |