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Variant ID | 259 |
---|---|
Genomic Coordinate (GRCh38) | g.22096955del |
Variant | c.850del |
Variant Start Position | 850 |
Location | Exon 8 |
Amino Acid Change | p.Ile284* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | Small deletion |
PMID | 22101457, 29460029, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22115072 ref:GA alt:G was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
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-22115072-GA-G |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | X-22115073-ATA-TAG X-22115073-AT-TA X-22115073-AT-TG |
Note | nan |
Warnings | - |