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Variant ID | 676 |
---|---|
Genomic Coordinate (GRCh38) | g.22227520G>A |
Variant | c.1979G>A |
Variant Start Position | 1979 |
Location | Exon 20 |
Amino Acid Change | p.Trp660* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 16636593, 9199930, 29707405, 34141703, 34806794 |
Article Count | 5 |
Times Observed | 6-10 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2, pp1, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22245637 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22245638 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | pp1, ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22245637-G-A X-22245638-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22245637-G-A X-22245638-G-A |
Other Alleles | X-22245637-GG-AA |
Note | nan |
Warnings | - |