Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 741 |
---|---|
Genomic Coordinate (GRCh38) | g.22245361del |
Variant | c.2099del |
Variant Start Position | 2099 |
Location | Exon 21 |
Amino Acid Change | p.Ala700Valfs*40 |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 26287655, 16636593, 9768674, 34806794 |
Article Count | 4 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22263476 ref:A alt:AT was not found in gnomAD exomes or genomes. chrX:22263477 ref:GC alt:G was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | - |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22263476-A-AT X-22263477-GC-G |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |