Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 910 |
---|---|
Genomic Coordinate (GRCh38) | g.22227613T>G |
Variant | c.2070+2T>G |
Variant Start Position | 2070 |
Location | Intron 20 |
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 | 32329911, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pvs1, ps2, ps3, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22245730 ref:T alt:G was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc, ps3, ps2 |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | 32329911: fx/exon skipping 32329911: method/minigene |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22245730-T-G |
GnomAD Alleles | - |
DBNSFP Alleles | X-22245730-T-G |
Other Alleles | - |
Note | nan |
Warnings | - |