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Variant ID | 662 |
---|---|
Genomic Coordinate (GRCh38) | g.22226495G>C |
Variant | c.1952G>C |
Variant Start Position | 1952 |
Location | Exon 19 |
Amino Acid Change | p.Arg651Pro |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 10439971, 9199930, 32329911, 23079138, 16636593, 24926462, 21902834, 33639975, 25894638, 10874297, 21553362, 34806794 |
Article Count | 12 |
Times Observed | 6-10 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, genu varum, bowed or bent leg, coxa vara, arthritis, hip dysplasia |
ACMG Categories | ps4m, pm2, pp1, pp3, ppc |
ACMG Explanations | pm2: chrX:22244612 ref:G alt:C 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, pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22244612-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22244612-G-C |
Other Alleles | X-22244612-GG-CC X-22244612-GG-CA X-22244612-GG-CT |
Note | nan |
Warnings | - |