Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 1006 |
---|---|
Genomic Coordinate (GRCh38) | g.22076474_22076475del |
Variant | c.436_436+1del |
Variant Start Position | 436 |
Location | Exon 4, Intron 4 |
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 | Small deletion |
PMID | 34141703, 27840894 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | short stature, genu varum |
ACMG Categories | pvs1, pm1, pm2, pp1, ppc, ppc_het |
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 | pp1, ppc_het, ppc |
No Contrary Evidence Found | True |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | False |
Literature Alleles | X-22094588-TGA-T |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | PMID 34141703 entry - Genomenon classified the variant as a Frameshift |
Warnings | - |