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Variant ID | 175 |
---|---|
Genomic Coordinate (GRCh38) | g.22077544G>A |
Variant | c.505G>A |
Variant Start Position | 505 |
Location | Exon 5 |
Amino Acid Change | p.Val169Met |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Benign | Effect Type | Missense |
Variant Type | SNV |
PMID | 19219621, 34806794 |
Article Count | 2 |
Times Observed | 6-10 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | pp3, bp2, bs4 |
ACMG Explanations | pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | Yes |
ClinVar Classification | Likely benign |
Categories In Literature | bs4, bp2 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | 4.12E-05 |
Thousand Genomes Allel Frequency | 0.000529801 |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22095662-G-A |
GnomAD Alleles | X-22095662-G-A |
DBNSFP Alleles | X-22095662-G-A |
Other Alleles | - |
Note | nan |
Warnings | - |