Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_177438.3(DICER1):c.3249A>G (p.Arg1083=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA390876326

1044750 (ClinVar)

Gene: DICER1

Condition: DICER1-related tumor predisposition

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 31f410e5-1f8e-4e3d-a6ec-3a719a0e2f91

Approved on: 2025-01-07

Published on: 2025-01-27

HGVS expressions

NM_177438.3:c.3249A>G

NM_177438.3(DICER1):c.3249A>G (p.Arg1083=)

NC_000014.9:g.95105091T>C

CM000676.2:g.95105091T>C

NC_000014.8:g.95571428T>C

CM000676.1:g.95571428T>C

NC_000014.7:g.94641181T>C

NG_016311.1:g.57332A>G

ENST00000529720.2:c.3249A>G

ENST00000531162.7:c.3249A>G

ENST00000674628.2:c.3249A>G

ENST00000675540.2:c.3249A>G

ENST00000696733.1:c.3249A>G

ENST00000696734.1:c.3249A>G

ENST00000696735.1:n.313A>G

ENST00000696736.1:c.3249A>G

ENST00000696737.1:c.3249A>G

ENST00000696738.1:n.1137A>G

ENST00000696920.1:n.3512A>G

ENST00000696921.1:n.4355A>G

ENST00000696922.1:n.3658A>G

ENST00000696923.1:c.3249A>G

ENST00000696924.1:c.3249A>G

ENST00000696925.1:n.3658A>G

ENST00000696926.1:n.412A>G

ENST00000343455.8:c.3249A>G

ENST00000393063.6:c.3249A>G

ENST00000526495.6:c.3249A>G

ENST00000532939.3:c.3249A>G

ENST00000556045.6:c.3249A>G

ENST00000675540.1:c.1071A>G

ENST00000675995.1:c.*1565A>G

ENST00000343455.7:c.3249A>G

ENST00000393063.5:c.3249A>G

ENST00000526495.5:c.3249A>G

ENST00000527414.5:c.3249A>G

ENST00000541352.5:c.3249A>G

ENST00000554367.1:n.458A>G

ENST00000556045.5:c.20A>G

NM_001195573.1:c.3249A>G

NM_001271282.2:c.3249A>G

NM_001291628.1:c.3249A>G

NM_030621.4:c.3249A>G

NM_177438.2:c.3249A>G

NM_001271282.3:c.3249A>G

NM_001291628.2:c.3249A>G

NM_001395677.1:c.3249A>G

NM_001395678.1:c.3249A>G

NM_001395679.1:c.3249A>G

NM_001395680.1:c.3249A>G

NM_001395682.1:c.3249A>G

NM_001395683.1:c.3249A>G

NM_001395684.1:c.3249A>G

NM_001395685.1:c.3249A>G

NM_001395686.1:c.2967A>G

NM_001395687.1:c.2844A>G

NM_001395688.1:c.2844A>G

NM_001395689.1:c.2844A>G

NM_001395690.1:c.2844A>G

NM_001395691.1:c.2682A>G

NM_001395692.1:c.3249A>G

NM_001395693.1:c.3249A>G

NM_001395694.1:c.3249A>G

NM_001395695.1:c.3249A>G

NM_001395696.1:c.2844A>G

NM_001395697.1:c.1566A>G

NR_172715.1:n.3667A>G

NR_172716.1:n.3851A>G

NR_172717.1:n.3761A>G

NR_172718.1:n.3761A>G

NR_172719.1:n.3594A>G

NR_172720.1:n.3594A>G

Likely Benign

BP4 BP7 PM2_Supporting

PS4 BS2

Evidence Links 0

Expert Panel

DICER1 and miRNA-Processing Gene VCEP

Criteria Specification Information

Criteria Specification: ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.3.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

DICER1 and miRNA-Processing Gene VCEP

The NM_177438.3:c.3249A>G (p.Arg1083=) variant in DICER1 is a synonymous (silent) variant that is not predicted to impact splicing by MaxEntScan or SpliceAI (BP4, BP7). Although this variant has been observed in germline cases, to our knowledge, this variant has not been reported in individuals with DICER1-related tumor predisposition (PS4 not met; Internal lab contributors). This variant is absent from gnomAD v4.1.0 (PM2_Supporting). In summary, this variant meets the criteria to be classified as likely benign for DICER1-related tumor predisposition based on the ACMG/AMP criteria applied, as specified by the ClinGen DICER1 VCEP: PM2_Supporting, BP4, BP7. (Bayesian Points: -1; VCEP specifications version 1.3.0; 01/07/2025).

BP4

The NM_177438.3:c.3249A>G (p.Arg1083=) variant in DICER1 is a synonymous (silent) variant that is not predicted to impact splicing by MaxEntScan or SpliceAI (BP4, BP7).

BP7

The NM_177438.3:c.3249A>G (p.Arg1083=) variant in DICER1 is a synonymous (silent) variant that is not predicted to impact splicing by MaxEntScan or SpliceAI (BP4, BP7).

PM2_Supporting

This variant is absent from gnomAD v4.1.0 (PM2_Supporting).

PS4

Although this variant has been observed in germline cases, to our knowledge, this variant has not been reported in individuals with DICER1-related tumor predisposition (PS4 not met; Internal lab contributors).

BS2

This variant has not been seen in 10 or more unrelated females without tumors through age 50 in at least one testing laboratory (BS2_Supporting not met).

Curation History

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