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Variant ID | 171 |
---|---|
Genomic Coordinate (GRCh38) | g.22077535C>T |
Variant | c.496C>T |
Variant Start Position | 496 |
Location | Exon 5 |
Amino Acid Change | p.Arg166Cys |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 10439971, 11502829, 23079138, 16636593, 24926462, 34806794 |
Article Count | 6 |
Times Observed | < 3 |
Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | pm2, pp3, ppc |
ACMG Explanations | pm2: The allele frequency for chrX:22095653 ref:C alt:T is less than 0.0005 for all populations in gnomAD exomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | 1.65E-05 |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22095653-C-T |
GnomAD Alleles | X-22095653-C-T |
DBNSFP Alleles | X-22095653-C-T |
Other Alleles | X-22095653-CGC-TGT |
Note | nan |
Warnings | - |