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Variant ID | 806 |
---|---|
Genomic Coordinate (GRCh38) | g.22247948T>C |
Variant | c.2245T>C |
Variant Start Position | 2245 |
Location | Exon 22 |
Amino Acid Change | p.Trp749Arg |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 9768674, 16636593, 32253725, 34806794 |
Article Count | 4 |
Times Observed | 3-5 |
Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature |
ACMG Categories | pm2, pp3, ppc |
ACMG Explanations | pm2: chrX:22266065 ref:T alt:C was not found in gnomAD exomes or genomes. chrX:22266065 ref:T 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 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22266065-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22266065-T-C X-22266065-T-A |
Other Alleles | X-22266065-TGG-CGC X-22266065-TGG-CGA X-22266065-TGG-CGT X-22266065-TGG-AGA |
Note | nan |
Warnings | - |