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NC_000014.8:g.(?_93687728)_(95560403_?)del AND DICER1-related tumor predisposition

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 18, 2020
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:
RCV002044285.8

Allele description [Variation Report for NC_000014.8:g.(?_93687728)_(95560403_?)del]

NC_000014.8:g.(?_93687728)_(95560403_?)del

Genes:
  • BTBD7:BTB domain containing 7 [Gene - OMIM - HGNC]
  • DDX24:DEAD-box helicase 24 [Gene - OMIM - HGNC]
  • OTUB2:OTU deubiquitinase, ubiquitin aldehyde binding 2 [Gene - OMIM - HGNC]
  • ASB2:ankyrin repeat and SOCS box containing 2 [Gene - OMIM - HGNC]
  • COX8C:cytochrome c oxidase subunit 8C [Gene - OMIM - HGNC]
  • DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
  • FAM181A:family with sequence similarity 181 member A [Gene - HGNC]
  • GSC:goosecoid homeobox [Gene - OMIM - HGNC]
  • IFI27L1:interferon alpha inducible protein 27 like 1 [Gene - OMIM - HGNC]
  • IFI27L2:interferon alpha inducible protein 27 like 2 [Gene - OMIM - HGNC]
  • IFI27:interferon alpha inducible protein 27 [Gene - OMIM - HGNC]
  • PRIMA1:proline rich membrane anchor 1 [Gene - OMIM - HGNC]
  • PPP4R4:protein phosphatase 4 regulatory subunit 4 [Gene - OMIM - HGNC]
  • SERPINA10:serpin family A member 10 [Gene - OMIM - HGNC]
  • SERPINA11:serpin family A member 11 [Gene - OMIM - HGNC]
  • SERPINA12:serpin family A member 12 [Gene - OMIM - HGNC]
  • SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
  • SERPINA2:serpin family A member 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • SERPINA3:serpin family A member 3 [Gene - OMIM - HGNC]
  • SERPINA4:serpin family A member 4 [Gene - OMIM - HGNC]
  • SERPINA5:serpin family A member 5 [Gene - OMIM - HGNC]
  • SERPINA6:serpin family A member 6 [Gene - OMIM - HGNC]
  • SERPINA9:serpin family A member 9 [Gene - OMIM - HGNC]
  • UBR7:ubiquitin protein ligase E3 component n-recognin 7 [Gene - OMIM - HGNC]
  • UNC79:unc-79 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q32.12-32.13
Genomic location:
Chr14: 93687728 - 95560403 (on Assembly GRCh37)
Preferred name:
NC_000014.8:g.(?_93687728)_(95560403_?)del
HGVS:
NC_000014.8:g.(?_93687728)_(95560403_?)del

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002116281Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Nov 18, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Functional characterization of multiple DICER1 mutations in an adolescent.

Wu MK, de Kock L, Conwell LS, Stewart CJ, King BR, Choong CS, Hussain K, Sabbaghian N, MacRae IJ, Fabian MR, Foulkes WD.

Endocr Relat Cancer. 2016 Feb;23(2):L1-5. doi: 10.1530/ERC-15-0460. Epub 2015 Nov 6. No abstract available.

PubMed [citation]
PMID:
26545620

DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association.

Rutter MM, Jha P, Schultz KA, Sheil A, Harris AK, Bauer AJ, Field AL, Geller J, Hill DA.

J Clin Endocrinol Metab. 2016 Jan;101(1):1-5. doi: 10.1210/jc.2015-2169. Epub 2015 Nov 10.

PubMed [citation]
PMID:
26555935
PMCID:
PMC4701837
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002116281.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Ser1814 amino acid residue in DICER1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26545620, 26555935, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with DICER1-related conditions. This variant results in the deletion of exon(s) 25-27 and part of exon 24 (c.5186_*1869107del) of the DICER1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024