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Variant ID | 733 |
---|---|
Genomic Coordinate (GRCh38) | g.22245340G>A |
Variant | c.2078G>A |
Variant Start Position | 2078 |
Location | Exon 21 |
Amino Acid Change | p.Cys693Tyr |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 23079138, 30682568, 16636593, 24229582, 24857004, 34806794 |
Article Count | 6 |
Times Observed | 3-5 |
Clinical Phenotype | Short Stature, Lower Limb Deformities |
ACMG Categories | ps4m, pm2, pp3, ppc |
ACMG Explanations | pm2: chrX:22263457 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 |
Categories In Literature | ppc, ps4m |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22263457-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22263457-G-A |
Other Alleles | X-22263457-GC-AT |
Note | nan |
Warnings | - |