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Variant ID | 168 |
---|---|
Genomic Coordinate (GRCh38) | g.22077521G>C |
Variant | c.482G>C |
Variant Start Position | 482 |
Location | Exon 5 |
Amino Acid Change | p.Arg161Pro |
ACMG Call | Likely Pathogenic |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Missense |
Variant Type | SNV |
PMID | 21050253, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pm2, ppc, bp4 |
ACMG Explanations | pm2: chrX:22095639 ref:G alt:C was not found in gnomAD exomes or genomes. bp4: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is tolerated. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22095639-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22095639-G-C |
Other Alleles | X-22095639-GG-CA X-22095639-GG-CT X-22095639-GG-CC |
Note | nan |
Warnings | - |