U.S. flag

An official website of the United States government

NM_177438.3(DICER1):c.2651-6T>A AND DICER1-related tumor predisposition

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2021
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:
RCV001872426.6

Allele description

NM_177438.3(DICER1):c.2651-6T>A

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.2651-6T>A
HGVS:
  • NC_000014.9:g.95107767A>T
  • NG_016311.1:g.54656T>A
  • NM_001195573.1:c.2651-6T>A
  • NM_001271282.3:c.2651-6T>A
  • NM_001291628.2:c.2651-6T>A
  • NM_030621.4:c.2651-6T>A
  • NM_177438.3:c.2651-6T>AMANE SELECT
  • LRG_492:g.54656T>A
  • NC_000014.8:g.95574104A>T
Links:
dbSNP: rs2140020926
NCBI 1000 Genomes Browser:
rs2140020926
Molecular consequence:
  • NM_001195573.1:c.2651-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271282.3:c.2651-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291628.2:c.2651-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_030621.4:c.2651-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_177438.3:c.2651-6T>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002123186Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Invitae, SCV002123186.3

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

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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DICER1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 16 of the DICER1 gene. It does not directly change the encoded amino acid sequence of the DICER1 protein.

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

Last Updated: Feb 20, 2024