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| Variant ID | 982 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22033056_22033057dup |
| Variant | c.51_52dup |
| Variant Start Position | 52 |
| Location | Exon 1 |
| Amino Acid Change | p.Gly18Glufs*15 |
| ACMG Call | nan |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small insertion |
| PMID | 32253725 |
| Article Count | 1 |
| Times Observed | <3 |
| Clinical Phenotype | abnormal bone development, pectus carinatum, bowed or bent leg |
| ACMG Categories | pvs1, pm2, pm6, ppc_het |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: Allele frequencies are below 0.0005 in gnomAD. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pm6, ppc_het |
| No Contrary Evidence Found | True |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | False |
| Literature Alleles | X-22051171-C-CAG |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |