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Variant ID | 896 |
---|---|
Genomic Coordinate (GRCh38) | g.22226492T>C |
Variant | c.1949T>C |
Variant Start Position | 1949 |
Location | Exon 19 |
Amino Acid Change | p.Leu650Pro |
ACMG Call | Uncertain Significance |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 32252220, 34011663, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | abnormal bone development, genu varum, bowed or bent leg, short stature |
ACMG Categories | pm2, pp1, pp3 |
ACMG Explanations | pm2: chrX:22244609 ref:T 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 | Likely pathogenic |
Categories In Literature | pp1 |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22244609-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22244609-T-C |
Other Alleles | X-22244609-TG-CT X-22244609-TG-CC X-22244609-TG-CA |
Note | nan |
Warnings | - |