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| Variant ID | 175 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22077544G>A |
| Variant | c.505G>A |
| Variant Start Position | 505 |
| Location | Exon 5 |
| Amino Acid Change | p.Val169Met |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Benign | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 19219621, 34806794 |
| Article Count | 2 |
| Times Observed | 6-10 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pp3, bp2, bs4 |
| ACMG Explanations | pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Likely benign |
| Categories In Literature | bs4, bp2 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | 4.12E-05 |
| Thousand Genomes Allel Frequency | 0.000529801 |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22095662-G-A |
| GnomAD Alleles | X-22095662-G-A |
| DBNSFP Alleles | X-22095662-G-A |
| Other Alleles | - |
| Note | nan |
| Warnings | - |