Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 95 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047115T>C |
| Variant | c.253T>C |
| Variant Start Position | 253 |
| Location | Exon 3 |
| Amino Acid Change | p.Cys85Arg |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 9199930, 11468271, 16636593, 12727977, 14992683, 15470265, 12001226, 19513579, 17710565, 10874297, 25894638, 18046499, 12111239, 34806794 |
| Article Count | 14 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | ps3, pm2, pp3, ppc |
| ACMG Explanations | pm2: chrX:22065233 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 | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ps3, ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 11468271: fx/abnormal cellular localization 11468271: fx/loss of protein structural stability 11468271: assay/immunofluorescence 11468271: assay/cell surface biotinylation 11468271: assay/pulse-chase assay 11468271: method/site-directed mutagenesis 11468271: method/ plasmid transfection 11468271: model/human cell line, not patient derived 11468271: flg/complete loss of function 12727977: fx/abnormal cellular localization 12727977: assay/western blot 12727977: method/site-directed mutagenesis 12727977: method/calcium-phosphate coprecipitation 12727977: model/human cell line, not patient derived 12727977: flg/partial loss of function 17710565: fx/abnormal cellular localization 17710565: assay/immunocytochemistry 17710565: assay/immunofluorescence 17710565: method/site-directed mutagenesis 17710565: method/ plasmid transfection 17710565: model/human cell line, not patient derived 17710565: flg/complete loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22065233-T-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22065233-T-C |
| Other Alleles | X-22065233-TGT-CGC X-22065233-TGT-CGA X-22065233-TGT-AGG X-22065233-TGT-CGG X-22065233-TGT-AGA |
| Note | nan |
| Warnings | - |