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Variant ID | 421 |
---|---|
Genomic Coordinate (GRCh38) | g.22133588G>C |
Variant | c.1368G>C |
Variant Start Position | 1368 |
Location | Exon 12 |
Amino Acid Change | p.Trp456Cys |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 29460029, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | - |
ACMG Categories | pm2, pp1, pp3, ppc |
ACMG Explanations | pm2: chrX:22151705 ref:G alt:T was not found in gnomAD exomes or genomes. chrX:22151705 ref:G 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 | Yes |
ClinVar Classification | Uncertain/conflicting |
Categories In Literature | ppc, pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22151705-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22151705-G-T X-22151705-G-C |
Other Alleles | - |
Note | nan |
Warnings | - |