NM_177438.3(DICER1):c.1377-4T>G AND multiple conditions

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Sep 5, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002500657.9

Allele description [Variation Report for NM_177438.3(DICER1):c.1377-4T>G]

NM_177438.3(DICER1):c.1377-4T>G

Gene:

DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.13

Genomic location:

Preferred name:

NM_177438.3(DICER1):c.1377-4T>G

HGVS:

NC_000014.9:g.95117758A>C
NG_016311.1:g.44665T>G
NM_001195573.1:c.1377-4T>G
NM_001271282.3:c.1377-4T>G
NM_001291628.2:c.1377-4T>G
NM_030621.4:c.1377-4T>G
NM_177438.3:c.1377-4T>GMANE SELECT
LRG_492t1:c.1377-4T>G
LRG_492:g.44665T>G
NC_000014.8:g.95584095A>C
NM_177438.2:c.1377-4T>G
NM_177438.3:c.1377-4T>G

Links:

dbSNP: rs192490028

NCBI 1000 Genomes Browser:

rs192490028

Molecular consequence:

NM_001195573.1:c.1377-4T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001271282.3:c.1377-4T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001291628.2:c.1377-4T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_030621.4:c.1377-4T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_177438.3:c.1377-4T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Euthyroid goiter (MNG1)
Synonyms:: GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION; MULTINODULAR GOITER, ADOLESCENT; SIMPLE GOITER; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007681; MedGen: C0302859; Orphanet: 276399; OMIM: 138800; Human Phenotype Ontology: HP:0009798

Name:: Rhabdomyosarcoma, embryonal, 2 (RMSE2)
Identifiers:: MONDO: MONDO:0859046; MedGen: C1867234; OMIM: 180295

Name:: Pleuropulmonary blastoma (PPB)
Identifiers:: MONDO: MONDO:0011014; MedGen: C1266144; OMIM: 601200; Human Phenotype Ontology: HP:0100528

Name:: Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Synonyms:: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW Syndrome
Identifiers:: MONDO: MONDO:0018445; MedGen: C4748924; OMIM: 618272

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002813098	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 22, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV006055339	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 5, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28524158, 29399970, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002813098

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 22, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV006055339

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 5, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Bouron-Dal Soglio D, Choong CS, Priest JR, van Diest PJ, Tanboon J, Wagner A, Ragoussis J, Choong PF, Foulkes WD.

Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18.

PubMed [citation]

PMID:: 28524158
PMCID:: PMC5518865

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

Sabbaghian N, Digilio MC, Blue GM, Revil T, Winlaw DS, Foulkes WD.

Congenit Heart Dis. 2018 May;13(3):401-406. doi: 10.1111/chd.12578. Epub 2018 Feb 5.

PubMed [citation]

PMID:: 29399970

See all PubMed Citations (3)

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002813098.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Pathology and Laboratory Medicine, Sinai Health System, SCV006055339.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 28, 2025

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