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| Variant ID | 329 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22111465A>C |
| Variant | c.1080-2A>C |
| Variant Start Position | 1080 |
| Location | Intron 9 |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
| Variant Type | Splicing |
| PMID | 26904698, 31102713, 34806794 |
| Article Count | 3 |
| Times Observed | 6-10 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pvs1, ps3, pm2, pp1 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22129583 ref:A alt:C was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1, ps3 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 31102713: fx/exon skipping 31102713: assay/reverse transcription pcr 31102713: method/site-directed mutagenesis 31102713: model/minigene 31102713: flg/partial loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22129583-A-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22129583-A-C |
| Other Alleles | - |
| Note | nan |
| Warnings | - |