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Variant ID | 781 |
---|---|
Genomic Coordinate (GRCh38) | g.22247869delinsGG |
Variant | c.2166delinsGG |
Variant Start Position | 2166 |
Location | Exon 22 |
Amino Acid Change | p.Ser722Argfs*4 |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small insertion |
PMID | 30238432, 24594262, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Gait Abnormalities, Skull Deformities, Thyroid |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22265981 ref:A alt:ATCCC was not found in gnomAD exomes or genomes. chrX:22265982 ref:TTAGTAACTTTGAAGAATTCCAGAAAGCTTTTAAC alt:T 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-22265981-A-ATCCC X-22265982-TTAGTAACTTTGAAGAATTCCAGAAAGCTTTTAAC-T X-22265986-TA-GG |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |