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Variant ID | 200 |
---|---|
Genomic Coordinate (GRCh38) | g.22077703G>A |
Variant | c.663+1G>A |
Variant Start Position | 663 |
Location | Intron 5 |
Amino Acid Change | p.? |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 30599486, 25031893, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | Short Stature, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries |
ACMG Categories | pvs1, pm2, pm6, ppc_het |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22095821 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc_het, pm6 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22095821-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22095821-G-A |
Other Alleles | - |
Note | nan |
Warnings | - |