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| Variant ID | 76 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047070_22047074del |
| Variant | c.208_212del |
| Variant Start Position | 208 |
| Location | Exon 3 |
| Amino Acid Change | p.Val70Serfs*7 |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small deletion |
| PMID | 26377240, 16636593, 33639975, 15057978, 9097956, 30607568, 32253725, 34806794 |
| Article Count | 8 |
| Times Observed | 6-10 |
| Clinical Phenotype | Gait Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature |
| ACMG Categories | pvs1, ps2, ps4m, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22065180 ref:TAAGTA alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, ps2, ps4m |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22065180-TAAGTA-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |