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Variant ID | 215 |
---|---|
Genomic Coordinate (GRCh38) | g.22090455C>T |
Variant | c.690C>T |
Variant Start Position | 690 |
Location | Exon 6 |
Amino Acid Change | p.Ala230= |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Synonymous |
Variant Type | SNV |
PMID | 11502829, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pm2, ppc, bp7 |
ACMG Explanations | pm2: The allele frequency for chrX:22108573 ref:C alt:G is less than 0.0005 for all populations in gnomAD exomes. chrX:22108573 ref:C alt:A was not found in gnomAD exomes or genomes. The allele frequency for chrX:22108573 ref:C alt:T is less than 0.0005 for all populations in gnomAD exomes. bp7: This is a synonymous variant. |
Variant in Clinvar | Yes |
ClinVar Classification | Uncertain/conflicting |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22108573-C-T |
GnomAD Alleles | X-22108573-C-G X-22108573-C-T |
DBNSFP Alleles | - |
Other Alleles | X-22108573-C-A |
Note | nan |
Warnings | - |