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Variant ID | 722 |
---|---|
Genomic Coordinate (GRCh38) | g.22245331A>C |
Variant | c.2071-2A>C |
Variant Start Position | 2071 |
Location | Intron 20 |
Amino Acid Change | p.? |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
Variant Type | Splicing |
PMID | 10439971, 19219621, 34141703, 34806794 |
Article Count | 4 |
Times Observed | 3-5 |
Clinical Phenotype | abnormal bone development, Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Short Stature |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22265966 ref:A alt:C was not found in gnomAD exomes or genomes. chrX:22263448 ref:A alt:C was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22265966-A-C X-22263448-A-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22265966-A-C X-22263448-A-C |
Other Alleles | - |
Note | nan |
Warnings | - |