G29A (p.Gly29Ala) variant of DICER1 (Endoribonuclease Dicer)
G29A (p.Gly29Ala) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G29A (p.Gly29Ala) variant details
- p.Gly29Ala
- rs766491650
- ClinGen CA7331748
- ClinVar RCV001972289
- ClinVar RCV002370565
- Uncertain significance
- Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.29
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; DICER1-related tumor pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)