Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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  • 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_177438.2(DICER1):c.4024C>T (p.Arg1342Cys)

CA16614508

412120 (ClinVar)

Gene: DICER1
Condition: DICER1-related tumor predisposition
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 07b1027e-b39c-4d7d-a4a2-2f6910f30b8a
Approved on: 2024-08-27
Published on: 2024-09-16

HGVS expressions

NM_177438.2:c.4024C>T
NM_177438.2(DICER1):c.4024C>T (p.Arg1342Cys)
NC_000014.9:g.95103372G>A
CM000676.2:g.95103372G>A
NC_000014.8:g.95569709G>A
CM000676.1:g.95569709G>A
NC_000014.7:g.94639462G>A
NG_016311.1:g.59051C>T
ENST00000529720.2:c.4024C>T
ENST00000531162.7:c.4024C>T
ENST00000674628.2:c.4024C>T
ENST00000675540.2:c.*674C>T
ENST00000696733.1:c.4024C>T
ENST00000696734.1:c.4024C>T
ENST00000696735.1:n.1011C>T
ENST00000696736.1:c.4024C>T
ENST00000696737.1:c.4024C>T
ENST00000696738.1:n.1912C>T
ENST00000696920.1:n.4287C>T
ENST00000696921.1:n.5130C>T
ENST00000696922.1:n.4433C>T
ENST00000696923.1:c.4024C>T
ENST00000696924.1:c.4024C>T
ENST00000696925.1:n.4433C>T
ENST00000696926.1:n.1187C>T
ENST00000343455.8:c.4024C>T
ENST00000393063.6:c.4024C>T
ENST00000526495.6:c.4024C>T
ENST00000532939.3:c.4024C>T
ENST00000556045.6:c.4024C>T
ENST00000675540.1:c.1769C>T
ENST00000675995.1:c.*2340C>T
ENST00000343455.7:c.4024C>T
ENST00000393063.5:c.4024C>T
ENST00000526495.5:c.4024C>T
ENST00000527414.5:c.4024C>T
ENST00000532939.2:c.59C>T
ENST00000541352.5:c.4024C>T
ENST00000556045.5:c.718C>T
NM_001195573.1:c.4024C>T
NM_001271282.2:c.4024C>T
NM_001291628.1:c.4024C>T
NM_030621.4:c.4024C>T
NM_001271282.3:c.4024C>T
NM_001291628.2:c.4024C>T
NM_177438.3:c.4024C>T
NM_001395677.1:c.4024C>T
NM_001395678.1:c.4024C>T
NM_001395679.1:c.4024C>T
NM_001395680.1:c.4024C>T
NM_001395682.1:c.4024C>T
NM_001395683.1:c.4024C>T
NM_001395684.1:c.4024C>T
NM_001395685.1:c.4024C>T
NM_001395686.1:c.3742C>T
NM_001395687.1:c.3619C>T
NM_001395688.1:c.3619C>T
NM_001395689.1:c.3619C>T
NM_001395690.1:c.3619C>T
NM_001395691.1:c.3457C>T
NM_001395692.1:c.4024C>T
NM_001395693.1:c.4024C>T
NM_001395694.1:c.4024C>T
NM_001395695.1:c.4024C>T
NM_001395696.1:c.3619C>T
NM_001395697.1:c.2341C>T
NR_172715.1:n.4442C>T
NR_172716.1:n.4626C>T
NR_172717.1:n.4536C>T
NR_172718.1:n.4459C>T
NR_172719.1:n.4292C>T
NR_172720.1:n.4369C>T

Uncertain Significance

Not Met criteria codes 17
BS4 BS3 BS1 BS2 BP4 PS2 PS4 PS3 PS1 BA1 PP4 PP1 PP3 PM6 PM2 PM1 PM5

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 1.3.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
DICER1 and miRNA-Processing Gene VCEP
The NM_177438.2:c.4024C>T variant in DICER1 is a missense variant predicted to cause substitution of arginine by cysteine at amino acid 1342 (p.Arg1342Cys). The highest population minor allele frequency in gnomAD v4.1.0 is 0.000016 (1/62506 alleles) in a population of unknown ancestry (PM2_Supporting, BS1, and BA1 are not met). In summary, since no ACMG/AMP criteria codes can be applied to this variant at this time, this variant is classified as a variant of unknown significance for DICER1-related tumor predisposition. (Bayesian Points: 0; VCEP specifications version 1.3; 08/27/2024)
Not Met criteria codes
BS4
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
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
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
BA1
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
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
REVEL = 0.716. Concordance of SpliceAI and MES that no splicing effects are predicted.
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
Absent from gnomAD v4.1. 1/62506 (0.000016) in the Remaining population. 1/1179988 (0.0000008475) in the European (non-Finnish) population.
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
p.Arg1342His is VUS in ClinVar
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