NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) AND DICER1-related tumor predisposition

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 1, 2019
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:: RCV000240939.4

Allele description [Variation Report for NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)]

NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)

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.4754C>G (p.Ser1585Ter)

Other names:

NP_803187.1:p.S1585*

HGVS:

NC_000014.9:g.95096166G>C
NG_016311.1:g.66257C>G
NM_001195573.1:c.4754C>G
NM_001271282.3:c.4754C>G
NM_001291628.2:c.4754C>G
NM_030621.4:c.4754C>G
NM_177438.3:c.4754C>GMANE SELECT
NP_001182502.1:p.Ser1585Ter
NP_001258211.1:p.Ser1585Ter
NP_001278557.1:p.Ser1585Ter
NP_085124.2:p.Ser1585Ter
NP_803187.1:p.Ser1585Ter
NP_803187.1:p.Ser1585Ter
LRG_492t1:c.4754C>G
LRG_492:g.66257C>G
LRG_492p1:p.Ser1585Ter
NC_000014.8:g.95562503G>C
NM_177438.2:c.4754C>G
p.S1585X

Protein change:

S1585*

Links:

dbSNP: rs875989779

NCBI 1000 Genomes Browser:

rs875989779

Molecular consequence:

NM_001195573.1:c.4754C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001271282.3:c.4754C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001291628.2:c.4754C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_030621.4:c.4754C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_177438.3:c.4754C>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: DICER1-related tumor predisposition
Synonyms:: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; DICER1 syndrome
Identifiers:: MONDO: MONDO:0100216; MedGen: C3839822

Recent activity

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9848[uid] AND (alive[prop]) (1)
Gene
MFAP3L microfibril associated protein 3 like [Homo sapiens]
MFAP3L microfibril associated protein 3 like [Homo sapiens]
Gene ID:9848

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000195624	International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota - PPB-DICER1 Genetic study See additional submitters Children's National Medical Center	criteria provided, single submitter (Hill et al. (Science. 2009))	Pathogenic (Nov 10, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19556464, 26925222
SCV001372185	Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2019)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 25022261, 26925222, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000195624

International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota - PPB-DICER1 Genetic study

See additional submitters

criteria provided, single submitter

(Hill et al. (Science. 2009))

Pathogenic
(Nov 10, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001372185

Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 1, 2019)

germline

curation

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	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

DICER1 mutations in familial pleuropulmonary blastoma.

Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ.

Science. 2009 Aug 21;325(5943):965. doi: 10.1126/science.1174334. Epub 2009 Jun 25.

PubMed [citation]

PMID:: 19556464
PMCID:: PMC3098036

Germ-line and somatic DICER1 mutations in pineoblastoma.

de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, et al.

Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7. Epub 2014 Jul 15.

PubMed [citation]

PMID:: 25022261
PMCID:: PMC4381868

See all PubMed Citations (4)

Details of each submission

From International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota - PPB-DICER1 Genetic study, SCV000195624.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research, SCV001372185.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	curation	PubMed (3)

Description

ACMG criteria met: PVS1, PM2, PP4

#	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		2	not provided	not provided	not provided

Last Updated: Jun 29, 2024

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