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Variant ID | 329 |
---|---|
Genomic Coordinate (GRCh38) | g.22111465A>C |
Variant | c.1080-2A>C |
Variant Start Position | 1080 |
Location | Intron 9 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
Variant Type | Splicing |
PMID | 26904698, 31102713, 34806794 |
Article Count | 3 |
Times Observed | 6-10 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | pvs1, ps3, pm2, pp1 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22129583 ref:A alt:C was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1, ps3 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 31102713: fx/exon skipping 31102713: assay/reverse transcription pcr 31102713: method/site-directed mutagenesis 31102713: model/minigene 31102713: flg/partial loss of function |
hg19 Mapping Failed | No |
Literature Alleles | X-22129583-A-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22129583-A-C |
Other Alleles | - |
Note | nan |
Warnings | - |