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.4874C>T (p.Ser1625Phe)

CA390866574

477225 (ClinVar)

Gene: DICER1
Condition: DICER1-related tumor predisposition
Inheritance Mode: Autosomal dominant inheritance
UUID: fdb0f498-172f-46e8-8ecb-39ad4b41d2d5
Approved on: 2024-01-09
Published on: 2024-01-17

HGVS expressions

NM_177438.3:c.4874C>T
NM_177438.3(DICER1):c.4874C>T (p.Ser1625Phe)
NC_000014.9:g.95096046G>A
CM000676.2:g.95096046G>A
NC_000014.8:g.95562383G>A
CM000676.1:g.95562383G>A
NC_000014.7:g.94632136G>A
NG_016311.1:g.66377C>T
ENST00000343455.8:c.4874C>T
ENST00000393063.6:c.4874C>T
ENST00000526495.6:c.4874C>T
ENST00000532939.3:c.4874C>T
ENST00000556045.6:c.4874C>T
ENST00000675540.1:c.2619C>T
ENST00000675995.1:c.*3190C>T
ENST00000343455.7:c.4874C>T
ENST00000393063.5:c.4874C>T
ENST00000526495.5:c.4874C>T
ENST00000527414.5:c.4874C>T
ENST00000532939.2:c.909C>T
ENST00000541352.5:c.4874C>T
ENST00000556045.5:c.1568C>T
NM_001195573.1:c.4874C>T
NM_001271282.2:c.4874C>T
NM_001291628.1:c.4874C>T
NM_030621.4:c.4874C>T
NM_177438.2:c.4874C>T
NM_001271282.3:c.4874C>T
NM_001291628.2:c.4874C>T
NM_001395677.1:c.4874C>T
NM_001395678.1:c.4874C>T
NM_001395679.1:c.4874C>T
NM_001395680.1:c.4874C>T
NM_001395682.1:c.4874C>T
NM_001395683.1:c.4874C>T
NM_001395684.1:c.4874C>T
NM_001395685.1:c.4874C>T
NM_001395686.1:c.4592C>T
NM_001395687.1:c.4469C>T
NM_001395688.1:c.4469C>T
NM_001395689.1:c.4469C>T
NM_001395690.1:c.4469C>T
NM_001395691.1:c.4307C>T
NM_001395692.1:c.4874C>T
NM_001395693.1:c.4874C>T
NM_001395694.1:c.4874C>T
NM_001395695.1:c.4874C>T
NM_001395696.1:c.4469C>T
NM_001395697.1:c.3191C>T
NR_172715.1:n.5292C>T
NR_172716.1:n.5476C>T
NR_172717.1:n.5386C>T
NR_172718.1:n.5309C>T
NR_172719.1:n.5142C>T
NR_172720.1:n.5219C>T
More

Uncertain Significance

Met criteria codes 2
BP4 PM2_Supporting
Not Met criteria codes 11
PM1 PM5 PM6 BS3 BP2 PS2 PS4 PS3 PS1 PP4 PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.2.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
DICER1 and miRNA-Processing Gene VCEP
The NM_177438.2:c.4874C>T variant in DICER1 is a missense variant predicted to cause substitution of serine by phenylalanine at amino acid 1625 (p.Ser1625Phe). This variant is absent from gnomAD v2.1.1 and v3.1.2 (non-cancer) (PM2_Supporting). In silico tools predict no damaging impact of the variant on protein function (REVEL: 0.1; SpliceAI: no effect on splicing) (BP4). In summary, this variant meets the criteria to be classified as Uncertain Significance for DICER1- related tumor predisposition based on the ACMG/AMP criteria applied, as specified by the ClinGen DICER1 VCEP: PM2_Supporting, BP4. (Bayesian Points: 0; VCEP specifications version 1.2.0; 01/09/2024)
Met criteria codes
BP4
In silico tools predict no damaging impact of the variant on protein function (REVEL: 0.1; MaxEntScan and SpliceAI: no effect on splicing) (BP4).
PM2_Supporting
This variant is absent from gnomAD v2.1.1 and v3.1.2 (non-cancer) (PM2_Supporting).
Not Met criteria codes
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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