NM_177438.3(DICER1):c.3405dup (p.Gly1136fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001293870.1

Allele description [Variation Report for NM_177438.3(DICER1):c.3405dup (p.Gly1136fs)]

NM_177438.3(DICER1):c.3405dup (p.Gly1136fs)

Gene:
DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_177438.3(DICER1):c.3405dup (p.Gly1136fs)
HGVS:
  • NC_000014.9:g.95103992dup
  • NG_016311.1:g.58432dup
  • NM_001195573.1:c.3405dup
  • NM_001271282.3:c.3405dup
  • NM_001291628.2:c.3405dup
  • NM_030621.4:c.3405dup
  • NM_177438.3:c.3405dupMANE SELECT
  • NP_001182502.1:p.Gly1136fs
  • NP_001258211.1:p.Gly1136fs
  • NP_001278557.1:p.Gly1136fs
  • NP_085124.2:p.Gly1136fs
  • NP_803187.1:p.Gly1136fs
  • LRG_492t1:c.3405dup
  • LRG_492:g.58432dup
  • NC_000014.8:g.95570329dup
  • NM_177438.2:c.3405dupA
  • p.G1136RfsX3
Protein change:
G1136fs
Links:
dbSNP: rs1891173247
NCBI 1000 Genomes Browser:
rs1891173247
Molecular consequence:
  • NM_001195573.1:c.3405dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001271282.3:c.3405dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001291628.2:c.3405dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_030621.4:c.3405dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_177438.3:c.3405dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001482288Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorfcriteria provided, single submitter
Likely pathogenicpaternalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1noresearch

Citations

PubMed

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 Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf, SCV001482288.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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