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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 | - |