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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 | - |