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Variant ID | 232 |
---|---|
Genomic Coordinate (GRCh38) | g.22094009G>A |
Variant | c.759G>A |
Variant Start Position | 759 |
Location | Exon 7 |
Amino Acid Change | p.Met253Ile |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 16636593, 9106524, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | - |
ACMG Explanations | pm1: Located in the Peptidase M13 domain. pm2: Allele frequencies are below 0.0005 in gnomAD. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | Yes |
ClinVar Classification | Uncertain/conflicting |
Categories In Literature | ppc |
No Contrary Evidence Found | No |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22112127-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22112127-G-A X-22112127-G-C X-22112127-G-T |
Other Alleles | - |
Note | nan |
Warnings | - |