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Variant ID | 160 |
---|---|
Genomic Coordinate (GRCh38) | g.22077473C>G |
Variant | c.437-3C>G |
Variant Start Position | 437 |
Location | Intron 4 |
Amino Acid Change | p.? |
ACMG Call | Uncertain Significance |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Intronic |
Variant Type | Splicing |
PMID | 31102713, 19219621, 24857004, 34806794 |
Article Count | 4 |
Times Observed | 3-5 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | ps3, pm2, ppc |
ACMG Explanations | pm2: chrX:22095591 ref:C alt:G was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Uncertain/conflicting |
Categories In Literature | ps3, pvs1, ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 31102713: fx/activation of cryptic splice site 31102713: assay/reverse transcription pcr 31102713: method/site-directed mutagenesis 31102713: model/minigene 31102713: flg/gain of function |
hg19 Mapping Failed | No |
Literature Alleles | X-22095591-C-G |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |