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Variant ID | 988 |
---|---|
Genomic Coordinate (GRCh38) | g.22038538G>C |
Variant | c.187+1G>C |
Variant Start Position | 187 |
Location | Intron 2 |
Amino Acid Change | p.? |
ACMG Call | nan |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 34141703 |
Article Count | 1 |
Times Observed | <3 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm1: Located in the Peptidase M13 domain. pm2: Allele frequencies are below 0.0005 in gnomAD. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | True |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | False |
Literature Alleles | X-22056656-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22056656-G-C |
Other Alleles | - |
Note | nan |
Warnings | - |