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NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 16, 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:
RCV003477994.1

Allele description [Variation Report for NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)]

NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)

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.5441C>T (p.Ser1814Leu)
Other names:
NM_030621.4(DICER1):c.5441C>T; p.Ser1814Leu
HGVS:
  • NC_000014.9:g.95091289G>A
  • NG_016311.1:g.71134C>T
  • NM_001195573.1:c.5365-180C>T
  • NM_001271282.3:c.5441C>T
  • NM_001291628.2:c.5441C>T
  • NM_030621.4:c.5441C>T
  • NM_177438.3:c.5441C>TMANE SELECT
  • NP_001258211.1:p.Ser1814Leu
  • NP_001278557.1:p.Ser1814Leu
  • NP_085124.2:p.Ser1814Leu
  • NP_803187.1:p.Ser1814Leu
  • NP_803187.1:p.Ser1814Leu
  • LRG_492t1:c.5441C>T
  • LRG_492:g.71134C>T
  • LRG_492p1:p.Ser1814Leu
  • NC_000014.8:g.95557626G>A
  • NM_177438.2:c.5441C>T
  • p.S1814L
Protein change:
S1814L
Links:
dbSNP: rs1060503625
NCBI 1000 Genomes Browser:
rs1060503625
Molecular consequence:
  • NM_001195573.1:c.5365-180C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271282.3:c.5441C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291628.2:c.5441C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030621.4:c.5441C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177438.3:c.5441C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004221866Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely pathogenic
(Aug 16, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

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
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004221866.1

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

Description

The DICER1 c.5441C>T (p.Ser1814Leu) variant has been reported in the published literature in individuals with DICER1-related disease (PMIDs: 26555935 (2016), 26545620 (2016)) and has been observed segregating with disease in related individuals (PMID: 26555935 (2016)). An experimental assay reports the variant reduces miRNA generation (PMID: 26545620 (2016)), however further evidence is needed to assess the global impact of the variant on protein function. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as likely pathogenic.

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

Last Updated: Nov 24, 2024