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NM_177438.3(DICER1):c.1907+105C>T AND not specified

Germline classification:
Conflicting classifications of pathogenicity (4 submissions)
Last evaluated:
Jul 1, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000609917.21

Allele description [Variation Report for NM_177438.3(DICER1):c.1907+105C>T]

NM_177438.3(DICER1):c.1907+105C>T

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.1907+105C>T
HGVS:
  • NC_000014.9:g.95115562G>A
  • NG_016311.1:g.46861C>T
  • NM_001195573.1:c.1907+105C>T
  • NM_001271282.3:c.1907+105C>T
  • NM_001291628.2:c.1907+105C>T
  • NM_030621.4:c.1907+105C>T
  • NM_177438.3:c.1907+105C>TMANE SELECT
  • LRG_492t1:c.1907+105C>T
  • LRG_492:g.46861C>T
  • NC_000014.8:g.95581899G>A
  • NM_177438.2:c.1907+105C>T
Links:
dbSNP: rs2275182
NCBI 1000 Genomes Browser:
rs2275182
Molecular consequence:
  • NM_001195573.1:c.1907+105C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271282.3:c.1907+105C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291628.2:c.1907+105C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_030621.4:c.1907+105C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_177438.3:c.1907+105C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000729752GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Jan 2, 2018)
germlineclinical testing

Citation Link,

SCV000993729PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jul 6, 2018)
germlineclinical testing

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

SCV001371889Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jul 1, 2019)
germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

SCV004848229Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Aug 22, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing, curation

Citations

PubMed

Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer.

Cao WM, Gao Y, Yang HJ, Xie SN, Meng XL, Pan ZW, Chen ZH, Huang J, Ye WW, Shao XY, Wang XJ.

Genet Mol Res. 2014 Dec 18;13(4):10754-60. doi: 10.4238/2014.December.18.16.

PubMed [citation]
PMID:
25526195

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 GeneDx, SCV000729752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From PreventionGenetics, part of Exact Sciences, SCV000993729.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research, SCV001371889.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (2)

Description

ACMG criteria met: None

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004848229.1

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

Description

The c.1907+105C>T variant in DICER1 is classified as benign because it has been identified in 22% (6927/30906) of total chromosomes, including 847 homozygotes, by the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.

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

Last Updated: Jan 19, 2025