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NM_177438.3(DICER1):c.4806C>T (p.Ala1602=) AND not specified

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Oct 11, 2021
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:
RCV001201141.9

Allele description [Variation Report for NM_177438.3(DICER1):c.4806C>T (p.Ala1602=)]

NM_177438.3(DICER1):c.4806C>T (p.Ala1602=)

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.4806C>T (p.Ala1602=)
HGVS:
  • NC_000014.9:g.95096114G>A
  • NG_016311.1:g.66309C>T
  • NM_001195573.1:c.4806C>T
  • NM_001271282.3:c.4806C>T
  • NM_001291628.2:c.4806C>T
  • NM_030621.4:c.4806C>T
  • NM_177438.3:c.4806C>TMANE SELECT
  • NP_001182502.1:p.Ala1602=
  • NP_001258211.1:p.Ala1602=
  • NP_001278557.1:p.Ala1602=
  • NP_085124.2:p.Ala1602=
  • NP_803187.1:p.Ala1602=
  • LRG_492t1:c.4806C>T
  • LRG_492:g.66309C>T
  • NC_000014.8:g.95562451G>A
  • NM_177438.2:c.4806C>T
  • p.A1602A
Links:
dbSNP: rs1890302137
NCBI 1000 Genomes Browser:
rs1890302137
Molecular consequence:
  • NM_001195573.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001271282.3:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001291628.2:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_030621.4:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_177438.3:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001372187Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Jul 1, 2019)
somaticcuration

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

SCV002071915Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Oct 11, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedcuration
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline and somatic DICER1 mutations in familial and sporadic liver tumors.

Caruso S, Calderaro J, Letouzé E, Nault JC, Couchy G, Boulai A, Luciani A, Zafrani ES, Bioulac-Sage P, Seror O, Imbeaud S, Zucman-Rossi J.

J Hepatol. 2017 Apr;66(4):734-742. doi: 10.1016/j.jhep.2016.12.010. Epub 2016 Dec 22.

PubMed [citation]
PMID:
28012864

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 Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research, SCV001372187.2

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

Description

ACMG criteria met: PM2, BP4, BP7

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

From Genetic Services Laboratory, University of Chicago, SCV002071915.1

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

Last Updated: Jan 19, 2025