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| Variant ID | 568 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22219070G>A |
| Variant | c.1735G>A |
| Variant Start Position | 1735 |
| Location | Exon 17 |
| Amino Acid Change | p.Gly579Arg |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 9199930, 23079138, 20838491, 21902834, 29460029, 9768674, 32133333, 15057978, 22577109, 18625346, 33639975, 32329911, 28163769, 19219621, 27884786, 21293852, 20157195, 16636593, 24684036, 24229582, 24857004, 32253725, 33796255, 34141703, 34806794, 9097956, 10439971, 27221261 |
| Article Count | 28 |
| Times Observed | 30+ |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(<LLN), Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, abnormal bone development, bowed or bent leg, short stature |
| ACMG Categories | ps2, ps3, ps4m, pm2, pp1, pp3, ppc, ppc_het |
| ACMG Explanations | pm2: chrX:22237187 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22237187 ref:G alt:C 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 | Pathogenic/Likely pathogenic |
| Categories In Literature | ppc, ps4m, ps2, pp1, ps3, ppc_het |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 11468271: fx/abnormal cellular localization 11468271: fx/loss of protein structural stability 11468271: assay/immunofluorescence 11468271: assay/cell surface biotinylation 11468271: assay/pulse-chase assay 11468271: method/site-directed mutagenesis 11468271: method/ plasmid transfection 11468271: model/human cell line, not patient derived 11468271: flg/complete loss of function 12727977: fx/abnormal cellular localization 12727977: assay/western blot 12727977: method/site-directed mutagenesis 12727977: method/calcium-phosphate coprecipitation 12727977: model/human cell line, not patient derived 12727977: flg/partial loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22237187-G-A X-22237187-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22237187-G-A X-22237187-G-C |
| Other Alleles | X-22237187-GGA-CGC X-22237187-GGA-AGG X-22237187-GGA-CGG X-22237187-GGA-CGT |
| Note | nan |
| Warnings | - |