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| Variant ID | 1006 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22076474_22076475del |
| Variant | c.436_436+1del |
| Variant Start Position | 436 |
| Location | Exon 4, Intron 4 |
| Amino Acid Change | p.? |
| ACMG Call | nan |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
| Variant Type | Small deletion |
| PMID | 34141703, 27840894 |
| Article Count | 2 |
| Times Observed | 3-5 |
| Clinical Phenotype | short stature, genu varum |
| ACMG Categories | pvs1, pm1, pm2, pp1, ppc, ppc_het |
| ACMG Explanations | pvs1: This is a loss of function variant. pm1: Located in the Peptidase M13 domain. pm2: Allele frequencies are below 0.0005 in gnomAD. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1, ppc_het, ppc |
| No Contrary Evidence Found | True |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | False |
| Literature Alleles | X-22094588-TGA-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | PMID 34141703 entry - Genomenon classified the variant as a Frameshift |
| Warnings | - |