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Variant ID | 712 |
---|---|
Genomic Coordinate (GRCh38) | g.22227605T>A |
Variant | c.2064T>A |
Variant Start Position | 2064 |
Location | Exon 20 |
Amino Acid Change | p.Tyr688* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Conflict | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 10439971, 23079138, 16636593, 24926462, 34806794 |
Article Count | 5 |
Times Observed | 3-5 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Bone and/or joint pain and/or joint stiffness |
ACMG Categories | pvs1, pm2, ppc, bs4 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22245722 ref:T alt:G was not found in gnomAD exomes or genomes. chrX:22245722 ref:T alt:A was not found in gnomAD exomes or genomes. chrX:22245716 ref:G alt:GAGTT was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | bs4, ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22245722-T-A X-22245716-G-GAGTT |
GnomAD Alleles | - |
DBNSFP Alleles | X-22245722-T-G X-22245722-T-A |
Other Alleles | X-22245721-AT-GA |
Note | nan |
Warnings | - |