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| Variant ID | 501 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22190507G>A |
| Variant | c.1645+5G>A |
| Variant Start Position | 1645 |
| Location | Intron 15 |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Intronic, Frameshift |
| Variant Type | Splicing |
| PMID | 11502829, 16636593, 31102713, 33639975, 19219621, 34141703, 34806794 |
| Article Count | 7 |
| Times Observed | 6-10 |
| Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | ps3, pm2, pp1, ppc |
| ACMG Explanations | pm2: chrX:22208624 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Likely pathogenic |
| Categories In Literature | ppc, ps3, pvs1, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 31102713: fx/activation of cryptic splice site 31102713: fx/intron retention 31102713: assay/reverse transcription pcr 31102713: method/site-directed mutagenesis 31102713: model/minigene 31102713: flg/partial loss of function 31102713: flg/gain of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22208624-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |