Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 874 |
---|---|
Genomic Coordinate (GRCh38) | g.22190500T>C |
Variant | c.1643T>C |
Variant Start Position | 1643 |
Location | Exon 15 |
Amino Acid Change | p.Ile548Thr |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 25237965, 34806794 |
Article Count | 2 |
Times Observed | 6-10 |
Clinical Phenotype | - |
ACMG Categories | pm2, pp1, pp3 |
ACMG Explanations | pm2: chrX:22208617 ref:T alt:C was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1 |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22208617-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22208617-T-C |
Other Alleles | X-22208617-TC-CT X-22208617-TC-CG X-22208617-TC-CA |
Note | nan |
Warnings | - |