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Variant ID | 376 |
---|---|
Genomic Coordinate (GRCh38) | g.22114500T>A |
Variant | c.1216T>A |
Variant Start Position | 1216 |
Location | Exon 11 |
Amino Acid Change | p.Cys406Ser |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 30682568, 24756041 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pm2, pm5, pp3, ppc |
ACMG Explanations | pm2: chrX:22132619 ref:G alt:C was not found in gnomAD exomes or genomes. chrX:22132618 ref:T alt:A was not found in gnomAD exomes or genomes. pm5: This is a missense variant at an amino acid residue where a different missense change has been established as pathogenic. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | X-22132619-G-C X-22132618-T-A |
Other Alleles | X-22132619-GT-CG X-22132619-GT-CC X-22132619-GT-CA X-22132618-TGT-AGC |
Note | nan |
Warnings | - |