NM_177438.3(DICER1):c.4206+9_4206+15del AND DICER1-related tumor predisposition

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 10, 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:: RCV000551344.14

Allele description [Variation Report for NM_177438.3(DICER1):c.4206+9_4206+15del]

NM_177438.3(DICER1):c.4206+9_4206+15del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

14q32.13

Genomic location:

Preferred name:

NM_177438.3(DICER1):c.4206+9_4206+15del

HGVS:

NC_000014.9:g.95099765_95099771del
NG_016311.1:g.62652_62658del
NM_001195573.1:c.4206+9_4206+15del
NM_001271282.3:c.4206+9_4206+15del
NM_001291628.2:c.4206+9_4206+15del
NM_030621.4:c.4206+9_4206+15del
NM_177438.3:c.4206+9_4206+15delMANE SELECT
LRG_492t1:c.4206+9_4206+15del
LRG_492:g.62652_62658del
NC_000014.8:g.95566102_95566108del
NC_000014.8:g.95566102_95566108delCACACAC
NM_030621.4:c.4206+9_4206+15del
NM_177438.2:c.4206+9_4206+15del
NM_177438.2:c.4206+9_4206+15delGTGTGTG
NM_177438.3:c.4206+9_4206+15delGTGTGTGMANE SELECT

Links:

dbSNP: rs199508452

NCBI 1000 Genomes Browser:

rs199508452

Molecular consequence:

NM_001195573.1:c.4206+9_4206+15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001271282.3:c.4206+9_4206+15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001291628.2:c.4206+9_4206+15del - intron variant - [Sequence Ontology: SO:0001627]
NM_030621.4:c.4206+9_4206+15del - intron variant - [Sequence Ontology: SO:0001627]
NM_177438.3:c.4206+9_4206+15del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000658272	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jul 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001876747	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 30, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000658272

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jul 10, 2023)

germline

clinical testing

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

SCV001876747

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 30, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000658272.7

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV001876747.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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