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| Variant ID | 722 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22245331A>C |
| Variant | c.2071-2A>C |
| Variant Start Position | 2071 |
| Location | Intron 20 |
| 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 | 10439971, 19219621, 34141703, 34806794 |
| Article Count | 4 |
| Times Observed | 3-5 |
| Clinical Phenotype | abnormal bone development, Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Short Stature |
| ACMG Categories | pvs1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22265966 ref:A alt:C was not found in gnomAD exomes or genomes. chrX:22263448 ref:A alt:C was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22265966-A-C X-22263448-A-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22265966-A-C X-22263448-A-C |
| Other Alleles | - |
| Note | nan |
| Warnings | - |