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Variant ID | 867 |
---|---|
Genomic Coordinate (GRCh38) | g.22178333_22178334del |
Variant | c.1543_1544del |
Variant Start Position | 1543 |
Location | Exon 14 |
Amino Acid Change | p.Gln515Valfs*2 |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 33639975, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: No frameshift variants were found in gnomAD exomes or genomes at this position. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | FALSE |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |