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NM_177438.3(DICER1):c.184G>A (p.Val62Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 1, 2019
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:
RCV001200980.3

Allele description [Variation Report for NM_177438.3(DICER1):c.184G>A (p.Val62Ile)]

NM_177438.3(DICER1):c.184G>A (p.Val62Ile)

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.184G>A (p.Val62Ile)
HGVS:
  • NC_000014.9:g.95132638C>T
  • NG_016311.1:g.29785G>A
  • NM_001195573.1:c.184G>A
  • NM_001271282.3:c.184G>A
  • NM_001291628.2:c.184G>A
  • NM_030621.4:c.184G>A
  • NM_177438.3:c.184G>AMANE SELECT
  • NP_001182502.1:p.Val62Ile
  • NP_001258211.1:p.Val62Ile
  • NP_001278557.1:p.Val62Ile
  • NP_085124.2:p.Val62Ile
  • NP_803187.1:p.Val62Ile
  • NP_803187.1:p.Val62Ile
  • LRG_492t1:c.184G>A
  • LRG_492:g.29785G>A
  • LRG_492p1:p.Val62Ile
  • NC_000014.8:g.95598975C>T
  • NM_177438.2:c.184G>A
  • p.V62I
Protein change:
V62I
Links:
dbSNP: rs746671039
NCBI 1000 Genomes Browser:
rs746671039
Molecular consequence:
  • NM_001195573.1:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271282.3:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291628.2:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030621.4:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177438.3:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001371950Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
criteria provided, single submitter

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

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

Germline Mutations in Predisposition Genes in Pediatric Cancer.

Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, et al.

N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18.

PubMed [citation]
PMID:
26580448
PMCID:
PMC4734119

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, SCV001371950.2

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

Description

ACMG criteria met: BS1, BP4

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

Last Updated: Nov 18, 2024