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Variant ID | 33 |
---|---|
Genomic Coordinate (GRCh38) | g.22033087G>A |
Variant | c.82G>A |
Variant Start Position | 82 |
Location | Exon 1 |
Amino Acid Change | p.Gly28Ser |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Benign | Effect Type | Missense |
Variant Type | SNV |
PMID | 19513579, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | - |
ACMG Categories | pm2, bp4, bs2 |
ACMG Explanations | pm2: The allele frequency for chrX:22051205 ref:G alt:A 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 | bs2 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | 9.06E-05 |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22051205-G-A |
GnomAD Alleles | X-22051205-G-A |
DBNSFP Alleles | X-22051205-G-A |
Other Alleles | X-22051205-GG-TC X-22051205-GGT-TCC X-22051205-GGT-TCA X-22051205-GGT-TCG X-22051205-GGT-AGC |
Note | nan |
Warnings | - |