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Variant ID | 96 |
---|---|
Genomic Coordinate (GRCh38) | g.22047116G>A |
Variant | c.254G>A |
Variant Start Position | 254 |
Location | Exon 3 |
Amino Acid Change | p.Cys85Tyr |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 11502829, 30682568, 9106524, 16636593, 10874297, 12001226, 34806794 |
Article Count | 7 |
Times Observed | 6-10 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pm2, pm5, pp1, pp3, ppc |
ACMG Explanations | pm2: chrX:22065234 ref:G alt:A 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 | Pathogenic |
Categories In Literature | ppc, pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22065234-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22065234-G-A |
Other Alleles | X-22065234-GT-AC |
Note | nan |
Warnings | - |