The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA7331487
242037 (ClinVar)
Gene: DICER1
Condition: DICER1-related tumor predisposition
Inheritance Mode: Autosomal dominant inheritance
UUID: b2f3ef09-1952-4eac-85bb-bcf6bc2eb97d
Approved on: 2024-06-25
Published on: 2024-07-30
HGVS expressions
NM_177438.3:c.1381A>G
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)
NC_000014.9:g.95117750T>C
CM000676.2:g.95117750T>C
NC_000014.8:g.95584087T>C
CM000676.1:g.95584087T>C
NC_000014.7:g.94653840T>C
NG_016311.1:g.44673A>G
ENST00000529720.2:c.1381A>G
ENST00000531162.7:c.1381A>G
ENST00000674628.2:c.1381A>G
ENST00000675540.2:c.1381A>G
ENST00000696733.1:c.1381A>G
ENST00000696734.1:c.1381A>G
ENST00000696736.1:c.1381A>G
ENST00000696737.1:c.1381A>G
ENST00000696920.1:n.1644A>G
ENST00000696921.1:n.2487A>G
ENST00000696922.1:n.1790A>G
ENST00000696923.1:c.1381A>G
ENST00000696924.1:c.1381A>G
ENST00000696925.1:n.1790A>G
ENST00000696927.1:n.984A>G
ENST00000696928.1:n.1578A>G
ENST00000343455.8:c.1381A>G
ENST00000393063.6:c.1381A>G
ENST00000526495.6:c.1381A>G
ENST00000532939.3:c.1381A>G
ENST00000556045.6:c.1381A>G
ENST00000674628.1:c.1381A>G
ENST00000675995.1:c.1381A>G
ENST00000343455.7:c.1381A>G
ENST00000393063.5:c.1381A>G
ENST00000526495.5:c.1381A>G
ENST00000527414.5:c.1381A>G
ENST00000532458.1:n.85A>G
ENST00000541352.5:c.1381A>G
NM_001195573.1:c.1381A>G
NM_001271282.2:c.1381A>G
NM_001291628.1:c.1381A>G
NM_030621.4:c.1381A>G
NM_177438.2:c.1381A>G
NM_001271282.3:c.1381A>G
NM_001291628.2:c.1381A>G
NM_001395677.1:c.1381A>G
NM_001395678.1:c.1381A>G
NM_001395679.1:c.1381A>G
NM_001395680.1:c.1381A>G
NM_001395682.1:c.1381A>G
NM_001395683.1:c.1381A>G
NM_001395684.1:c.1381A>G
NM_001395685.1:c.1381A>G
NM_001395686.1:c.1099A>G
NM_001395687.1:c.976A>G
NM_001395688.1:c.976A>G
NM_001395689.1:c.976A>G
NM_001395690.1:c.976A>G
NM_001395691.1:c.814A>G
NM_001395692.1:c.1381A>G
NM_001395693.1:c.1381A>G
NM_001395694.1:c.1381A>G
NM_001395695.1:c.1381A>G
NM_001395696.1:c.976A>G
NM_001395697.1:c.-188A>G
NM_001395698.1:c.976A>G
NR_172715.1:n.1799A>G
NR_172716.1:n.1726A>G
NR_172717.1:n.1893A>G
NR_172718.1:n.1893A>G
NR_172719.1:n.1726A>G
NR_172720.1:n.1726A>G
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Evidence submitted by expert panel
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