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| Variant ID | 215 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22090455C>T |
| Variant | c.690C>T |
| Variant Start Position | 690 |
| Location | Exon 6 |
| Amino Acid Change | p.Ala230= |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Synonymous |
| Variant Type | SNV |
| PMID | 11502829, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Lower Limb Deformities |
| ACMG Categories | pm2, ppc, bp7 |
| ACMG Explanations | pm2: The allele frequency for chrX:22108573 ref:C alt:G is less than 0.0005 for all populations in gnomAD exomes. chrX:22108573 ref:C alt:A was not found in gnomAD exomes or genomes. The allele frequency for chrX:22108573 ref:C alt:T is less than 0.0005 for all populations in gnomAD exomes. bp7: This is a synonymous variant. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Uncertain/conflicting |
| 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-22108573-C-T |
| GnomAD Alleles | X-22108573-C-G X-22108573-C-T |
| DBNSFP Alleles | - |
| Other Alleles | X-22108573-C-A |
| Note | nan |
| Warnings | - |