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Variant ID | 288 |
---|---|
Genomic Coordinate (GRCh38) | g.22099019G>T |
Variant | c.947G>T |
Variant Start Position | 947 |
Location | Exon 9 |
Amino Acid Change | p.Gly316Val |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Missense |
Variant Type | SNV |
PMID | 25861491, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities |
ACMG Categories | pm2, pp1, bp4 |
ACMG Explanations | pm2: The allele frequency for chrX:22117137 ref:G alt:T is less than 0.0005 for all populations in gnomAD exomes. bp4: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is tolerated. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | 3.30E-05 |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22117137-G-T |
GnomAD Alleles | X-22117137-G-T |
DBNSFP Alleles | X-22117137-G-T |
Other Alleles | X-22117137-GC-TA X-22117137-GC-TG X-22117137-GC-TT |
Note | nan |
Warnings | - |