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Variant ID | 623 |
---|---|
Genomic Coordinate (GRCh38) | g.22221692_22221693del |
Variant | c.1848del |
Variant Start Position | 1848 |
Location | Exon 18 |
Amino Acid Change | p.Lys616Asnfs*3 |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 18625346, 20157195, 34806794 |
Article Count | 3 |
Times Observed | 11-20 |
Clinical Phenotype | - |
ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22239801 ref:A alt:AAAAC was not found in gnomAD exomes or genomes. chrX:22239805 ref:CA alt:C was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ps4m, ppc, pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22239801-A-AAAAC X-22239805-CA-C |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |