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Variant ID | 794 |
---|---|
Genomic Coordinate (GRCh38) | g.22247901G>A |
Variant | c.2198G>A |
Variant Start Position | 2198 |
Location | Exon 22 |
Amino Acid Change | p.Cys733Tyr |
ACMG Call | Likely Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 25839938, 21293852, 16636593, 30607568, 23813354, 24857004, 34806794 |
Article Count | 7 |
Times Observed | 3-5 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries |
ACMG Categories | pm2, pp1, pp3, ppc, ppc_het |
ACMG Explanations | pm2: chrX:22266018 ref:G alt:A 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/Likely pathogenic |
Categories In Literature | pp1, ppc, ppc_het |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22266018-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22266018-G-A |
Other Alleles | X-22266018-GT-AC |
Note | nan |
Warnings | - |