NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2021
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:: RCV002531483.9

Allele description [Variation Report for NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln)]

NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln)

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.2281G>C (p.Glu761Gln)

HGVS:

NC_000020.11:g.32805387G>C
NG_007290.1:g.48003G>C
NM_001207055.2:c.2046-2375G>C
NM_001207056.2:c.1944-2375G>C
NM_006892.4:c.2281G>CMANE SELECT
NM_175848.2:c.2221G>C
NM_175849.2:c.2172-2375G>C
NM_175850.3:c.2257G>C
NP_008823.1:p.Glu761Gln
NP_787044.1:p.Glu741Gln
NP_787046.1:p.Glu753Gln
LRG_56t1:c.2281G>C
LRG_56:g.48003G>C
NC_000020.10:g.31393193G>C
NM_006892.3:c.2281G>C

Protein change:

E741Q

Links:

dbSNP: rs767814649

NCBI 1000 Genomes Browser:

rs767814649

Molecular consequence:

NM_001207055.2:c.2046-2375G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001207056.2:c.1944-2375G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_175849.2:c.2172-2375G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_006892.4:c.2281G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_175848.2:c.2221G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_175850.3:c.2257G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003536355	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 28, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003536355

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 28, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1).

Kellner ES, Rathbun PA, Marshall GS, Tolusso LK, Smolarek TA, Sun M, Chandra S, Bleesing J, Marsh RA.

J Clin Immunol. 2019 Nov;39(8):857-859. doi: 10.1007/s10875-019-00704-6. Epub 2019 Nov 4. No abstract available.

PubMed [citation]

PMID:: 31686314

Details of each submission

From Ambry Genetics, SCV003536355.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.2281G>C (p.E761Q) alteration is located in exon 21 (coding exon 20) of the DNMT3B gene. This alteration results from a G to C substitution at nucleotide position 2281, causing the glutamic acid (E) at amino acid position 761 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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