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| Variant ID | 747 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22245395T>A |
| Variant | c.2133T>A |
| Variant Start Position | 2133 |
| Location | Exon 21 |
| Amino Acid Change | p.Ser711Arg |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 11468271, 16636593, 12727977, 25894638, 18046499, 15470265, 12111239, 34806794 |
| Article Count | 8 |
| Times Observed | 3-5 |
| Clinical Phenotype | - |
| ACMG Categories | ps3, pm2, pp1, pp3 |
| ACMG Explanations | pm2: chrX:22263512 ref:T alt:G was not found in gnomAD exomes or genomes. chrX:22263512 ref:T alt:A was not found in gnomAD exomes or genomes. chrX:22263510 ref:A 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 | ps3, pp1 |
| 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 endopeptidase activity 12727977: fx/abnormal cellular localization 12727977: assay/endopeptidase activity assay 12727977: method/site-directed mutagenesis 12727977: method/calcium-phosphate coprecipitation 12727977: model/human cell line, not patient derived 12727977: flg/complete loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22263512-T-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22263512-T-G X-22263512-T-A X-22263510-A-C |
| Other Alleles | X-22263510-AGT-CGA X-22263510-AGT-CGC X-22263510-AGT-CGG |
| Note | nan |
| Warnings | - |