U.S. flag

An official website of the United States government

NM_006892.4(DNMT3B):c.562dup (p.Tyr188fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 3, 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:
RCV000413388.2

Allele description [Variation Report for NM_006892.4(DNMT3B):c.562dup (p.Tyr188fs)]

NM_006892.4(DNMT3B):c.562dup (p.Tyr188fs)

Gene:
DNMT3B:DNA methyltransferase 3 beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
NM_006892.4(DNMT3B):c.562dup (p.Tyr188fs)
HGVS:
  • NC_000020.11:g.32787359dup
  • NG_007290.1:g.29975dup
  • NM_001207055.2:c.436dup
  • NM_001207056.2:c.334dup
  • NM_006892.4:c.562dupMANE SELECT
  • NM_175848.2:c.562dup
  • NM_175849.2:c.562dup
  • NM_175850.3:c.598dup
  • NP_001193984.1:p.Tyr146fs
  • NP_001193985.1:p.Tyr112fs
  • NP_008823.1:p.Tyr188fs
  • NP_787044.1:p.Tyr188fs
  • NP_787045.1:p.Tyr188fs
  • NP_787046.1:p.Tyr200fs
  • LRG_56t1:c.562dup
  • LRG_56:g.29975dup
  • NC_000020.10:g.31375165dup
  • NM_006892.3:c.562dup
  • NM_006892.3:c.562dupT
Protein change:
Y112fs
Links:
dbSNP: rs1057518176
NCBI 1000 Genomes Browser:
rs1057518176
Molecular consequence:
  • NM_001207055.2:c.436dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001207056.2:c.334dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006892.4:c.562dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175848.2:c.562dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175849.2:c.562dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175850.3:c.598dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491615GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 3, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491615.2

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Apr 23, 2022