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| Variant ID | 126 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22076386A>G |
| Variant | c.350-2A>G |
| Variant Start Position | 350 |
| Location | Intron 3 |
| Amino Acid Change | p.? |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
| Variant Type | Splicing |
| PMID | 26051471, 29460029, 34806794 |
| Article Count | 3 |
| Times Observed | 3-5 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pvs1, ps3, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22094504 ref:A alt:G was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, ps3 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 26051471: fx/exon skipping 26051471: assay/reverse transcription pcr 26051471: model/patient rna sample |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22094504-A-G |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22094504-A-G |
| Other Alleles | - |
| Note | nan |
| Warnings | - |