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Variant ID | 98 |
---|---|
Genomic Coordinate (GRCh38) | g.22047116G>C |
Variant | c.254G>C |
Variant Start Position | 254 |
Location | Exon 3 |
Amino Acid Change | p.Cys85Ser |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 30682568, 32329911, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | bowed or bent legs, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature |
ACMG Categories | pm2, pm5, pp3, ppc |
ACMG Explanations | pm2: chrX:22065233 ref:T alt:A was not found in gnomAD exomes or genomes. chrX:22065234 ref:G alt:C was not found in gnomAD exomes or genomes. pm5: This is a missense variant at an amino acid residue where a different missense change has been established as pathogenic. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | Yes |
ClinVar Classification | Likely pathogenic |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | X-22065233-T-A X-22065234-G-C |
Other Alleles | X-22065233-TGT-AGC X-22065234-GT-CA X-22065234-GT-CC X-22065234-GT-CG |
Note | nan |
Warnings | - |