NC_000014.8:g.(?_95560215)_(95583042_?)dup AND DICER1-related tumor predisposition

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004578168.2

Allele description [Variation Report for NC_000014.8:g.(?_95560215)_(95583042_?)dup]

NC_000014.8:g.(?_95560215)_(95583042_?)dup

Gene:: DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
Variant type:: Duplication
Cytogenetic location:: 14q32.13
Genomic location:: Chr14: 95560215 - 95583042 (on Assembly GRCh37)
Preferred name:: NC_000014.8:g.(?_95560215)_(95583042_?)dup
HGVS:: NC_000014.8:g.(?_95560215)_(95583042_?)dup
This HGVS expression did not pass validation

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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PREDICTED: Homo sapiens family with sequence similarity 13 member A (FAM13A), tr...
PREDICTED: Homo sapiens family with sequence similarity 13 member A (FAM13A), transcript variant X4, mRNA
gi|2217348518|ref|XM_005262683.4|

Nucleotide
DA011411 ADRGL2 Homo sapiens cDNA clone ADRGL2003332 5', mRNA sequence
DA011411 ADRGL2 Homo sapiens cDNA clone ADRGL2003332 5', mRNA sequence
gi|78233053|gnl|dbEST|32745927|dbj| 411.1|

Nucleotide
Homo sapiens potassium inwardly rectifying channel subfamily J member 1 (KCNJ1),...
Homo sapiens potassium inwardly rectifying channel subfamily J member 1 (KCNJ1), transcript variant 3, mRNA
gi|1779421314|ref|NM_153765.3|

Nucleotide
Perca flavescens isolate YP-PL-M2 chromosome 19 genomic scaffold, PFLA_1.0 19, w...
Perca flavescens isolate YP-PL-M2 chromosome 19 genomic scaffold, PFLA_1.0 19, whole genome shotgun sequence
gi|1604324149|gnl|ASM:GCF_004354865 |ref|NW_021166508.1||gpp|GPS_017942784.1|

Nucleotide
PREDICTED: Homo sapiens plexin A4 (PLXNA4), transcript variant X1, mRNA
PREDICTED: Homo sapiens plexin A4 (PLXNA4), transcript variant X1, mRNA
gi|2217369001|ref|XM_006716171.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005065640	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 7, 2023)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25640679, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005065640

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 7, 2023)

unknown

clinical testing

PubMed (2)
[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

Citations

PubMed

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.

Newman S, Hermetz KE, Weckselblatt B, Rudd MK.

Am J Hum Genet. 2015 Feb 5;96(2):208-20. doi: 10.1016/j.ajhg.2014.12.017. Epub 2015 Jan 29.

PubMed [citation]

PMID:: 25640679
PMCID:: PMC4320257

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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005065640.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DICER1-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 10-24 of the DICER1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame.

#	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

Last Updated: Sep 29, 2024

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