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| Variant ID | 232 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22094009G>A |
| Variant | c.759G>A |
| Variant Start Position | 759 |
| Location | Exon 7 |
| Amino Acid Change | p.Met253Ile |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 16636593, 9106524, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | - |
| ACMG Explanations | pm1: Located in the Peptidase M13 domain. pm2: Allele frequencies are below 0.0005 in gnomAD. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Uncertain/conflicting |
| Categories In Literature | ppc |
| No Contrary Evidence Found | No |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22112127-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22112127-G-A X-22112127-G-C X-22112127-G-T |
| Other Alleles | - |
| Note | nan |
| Warnings | - |