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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 | - |