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| Variant ID | 85 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047092G>C |
| Variant | c.230G>C |
| Variant Start Position | 230 |
| Location | Exon 3 |
| Amino Acid Change | p.Cys77Ser |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 16636593, 19219621, 9097956, 10874297, 12001226, 32253725, 34806794 |
| Article Count | 7 |
| Times Observed | 3-5 |
| Clinical Phenotype | Hearing Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature |
| ACMG Categories | pm2, pm6, pp3, ppc |
| ACMG Explanations | pm2: chrX:22065210 ref:G alt:C was not found in gnomAD exomes or genomes. chrX:22065209 ref:T alt:A was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Likely pathogenic |
| Categories In Literature | ppc, pm6 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22065210-G-C X-22065209-T-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22065210-G-C X-22065209-T-A |
| Other Alleles | X-22065210-GT-CA X-22065210-GT-CG X-22065210-GT-CC X-22065209-TGT-AGC |
| Note | nan |
| Warnings | - |