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Variant ID | 472 |
---|---|
Genomic Coordinate (GRCh38) | g.22178333C>T |
Variant | c.1543C>T |
Variant Start Position | 1543 |
Location | Exon 14 |
Amino Acid Change | p.Gln515* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 26377240, 23079138, 24926462, 21902834, 31927522, 34806794 |
Article Count | 6 |
Times Observed | 6-10 |
Clinical Phenotype | Reduced_TmP/GFR_(<LLN), Other Musculoskeletal Abnormalities, Short Stature, Reduced Serum Phosphate, bone pain, gait disturbance, abnormal dental development, bowed or bent legs, stunted growth, abnormal bone development, osteoporosis |
ACMG Categories | pvs1, ps2, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22196450 ref:C alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc, ps2 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22196450-C-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22196450-C-T |
Other Alleles | X-22196450-CAG-TAA X-22196450-CAG-TGA |
Note | nan |
Warnings | - |