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NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2023
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:
RCV003274202.2

Allele description [Variation Report for NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp)]

NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp)

Genes:
LOC126863014:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:31385992-31387191 [Gene]
DNMT3B:DNA methyltransferase 3 beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp)
HGVS:
  • NC_000020.11:g.32798578C>T
  • NG_007290.1:g.41194C>T
  • NG_087511.1:g.493C>T
  • NM_001207055.2:c.1423C>T
  • NM_001207056.2:c.1321C>T
  • NM_006892.4:c.1609C>TMANE SELECT
  • NM_175848.2:c.1549C>T
  • NM_175849.2:c.1549C>T
  • NM_175850.3:c.1585C>T
  • NP_001193984.1:p.Arg475Trp
  • NP_001193985.1:p.Arg441Trp
  • NP_008823.1:p.Arg537Trp
  • NP_008823.1:p.Arg537Trp
  • NP_787044.1:p.Arg517Trp
  • NP_787045.1:p.Arg517Trp
  • NP_787046.1:p.Arg529Trp
  • LRG_56t1:c.1609C>T
  • LRG_56:g.41194C>T
  • LRG_56p1:p.Arg537Trp
  • NC_000020.10:g.31386384C>T
  • NM_006892.3:c.1609C>T
Protein change:
R441W
Molecular consequence:
  • NM_001207055.2:c.1423C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001207056.2:c.1321C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006892.4:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175848.2:c.1549C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175849.2:c.1549C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175850.3:c.1585C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

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  • Oncostatin M Receptor beta Subunit
    Oncostatin M Receptor beta Subunit
    An ONCOSTATIN M-specific receptor subunit that combines with CYTOKINE RECEPTOR GP130 to form the ONCOSTATIN M TYPE II RECEPTOR.<br/>Year introduced: 2007(2003)
    MeSH
  • Receptors, OSM-LIF
    Receptors, OSM-LIF
    Cell surface receptors formed from the dimerization of LIF RECEPTOR ALPHA SUBUNIT with CYTOKINE RECEPTOR GP130. Although originally described as receptors for LEUKEMIA INHIBIT...<br/>Year introduced: 2007(1991)
    MeSH
  • Heterogeneous-Nuclear Ribonucleoprotein Group M
    Heterogeneous-Nuclear Ribonucleoprotein Group M
    A group of closely-related 72-74-kDa heterogeneous-nuclear ribonucleoproteins that are involved in RNA SPLICING events.<br/>Year introduced: 2003
    MeSH
  • Apolipoproteins M
    Apolipoproteins M
    Apolipoproteins and lipocalins that occur in HIGH-DENSITY LIPOPROTEINS. They bind or transport lipids in the blood including sphingosine-1-phosphate, MYRISTIC ACID; STEARIC AC...<br/>Year introduced: 2018
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003987020Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 31, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003987020.2

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

Description

The c.1609C>T (p.R537W) alteration is located in exon 15 (coding exon 14) of the DNMT3B gene. This alteration results from a C to T substitution at nucleotide position 1609, causing the arginine (R) at amino acid position 537 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024