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Variant ID | 585 |
---|---|
Genomic Coordinate (GRCh38) | g.22219104G>A |
Variant | c.1768+1G>A |
Variant Start Position | 1768 |
Location | Intron 17 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 10439971, 16636593, 28383812, 34806794 |
Article Count | 4 |
Times Observed | 3-5 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pvs1, ps3, pm2, pp1 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22237221 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ps3, pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 28383812: fx/exon skipping 28383812: assay/reverse transcription pcr 28383812: model/patient rna sample 28383812: flg/partial loss of function |
hg19 Mapping Failed | No |
Literature Alleles | X-22237221-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22237221-G-A |
Other Alleles | - |
Note | nan |
Warnings | - |