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| Variant ID | 988 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22038538G>C |
| Variant | c.187+1G>C |
| Variant Start Position | 187 |
| Location | Intron 2 |
| 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 | Splicing |
| PMID | 34141703 |
| Article Count | 1 |
| Times Observed | <3 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, pm1, pm2, ppc |
| 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 | ppc |
| No Contrary Evidence Found | True |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | False |
| Literature Alleles | X-22056656-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22056656-G-C |
| Other Alleles | - |
| Note | nan |
| Warnings | - |