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| Variant ID | 586 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22219105T>G |
| Variant | c.1768+2T>G |
| Variant Start Position | 1768 |
| Location | Intron 17 |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
| Variant Type | Splicing |
| PMID | 24836714, 31102713, 32257293, 33666701, 34141703, 34806794 |
| Article Count | 6 |
| Times Observed | 3-5 |
| Clinical Phenotype | Bone and/or Joint Pain and/or Joint Stiffness, Short Stature, Lower Limb Deformities |
| ACMG Categories | pvs1, ps2, ps3, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22237222 ref:T alt:G was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, ps2, 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-22237222-T-G |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22237222-T-G |
| Other Alleles | - |
| Note | nan |
| Warnings | - |