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Variant ID | 76 |
---|---|
Genomic Coordinate (GRCh38) | g.22047070_22047074del |
Variant | c.208_212del |
Variant Start Position | 208 |
Location | Exon 3 |
Amino Acid Change | p.Val70Serfs*7 |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 26377240, 16636593, 33639975, 15057978, 9097956, 30607568, 32253725, 34806794 |
Article Count | 8 |
Times Observed | 6-10 |
Clinical Phenotype | Gait Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature |
ACMG Categories | pvs1, ps2, ps4m, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22065180 ref:TAAGTA alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc, ps2, ps4m |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22065180-TAAGTA-T |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |