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| Variant ID | 849 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22099070_22099072del |
| Variant | c.998_1000del |
| Variant Start Position | 998 |
| Location | Exon 9 |
| Amino Acid Change | p.Ile333del |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Deletion |
| Variant Type | Small deletion |
| PMID | 32329911, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | ps3, pm2, pm4, ppc |
| ACMG Explanations | pm2: No deletion variants were found in gnomAD exomes or genomes at this position. pm4: This variant causes an in-frame length change and is not in a repeat region. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc, ps3 |
| No Contrary Evidence Found | TRUE |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 32329911: fx/abnormal cellular localization 32329911: fx/impaired secretion from the golgi complex 32329911: fx/reduced traffic from er to golgi 32329911: model/human cell line, not patient derived 32329911: method/ plasmid transfection 32329911: assay/immunofluorescence 32329911: assay/immunoblot 32329911: fx/loss of expression - protein |
| hg19 Mapping Failed | FALSE |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |