NM_006892.4(DNMT3B):c.*245dup AND Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000282840.5

Allele description [Variation Report for NM_006892.4(DNMT3B):c.*245dup]

NM_006892.4(DNMT3B):c.*245dup

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.*245dup

HGVS:

NC_000020.11:g.32808148dup
NG_007290.1:g.50764dup
NM_001207055.2:c.*245dup
NM_001207056.2:c.*245dup
NM_006892.4:c.*245dupMANE SELECT
NM_175848.2:c.*245dup
NM_175849.2:c.*245dup
NM_175850.3:c.*245dup
LRG_56t1:c.*245dup
LRG_56:g.50764dup
NC_000020.10:g.31395954dup
NM_006892.3:c.*245dupT

Links:

dbSNP: rs886056621

NCBI 1000 Genomes Browser:

rs886056621

Molecular consequence:

NM_001207055.2:c.*245dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001207056.2:c.*245dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_006892.4:c.*245dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_175848.2:c.*245dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_175849.2:c.*245dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_175850.3:c.*245dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Identifiers:: MONDO: MONDO:0009454; MedGen: C4551557; Orphanet: 2268; OMIM: 242860

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000433457	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000433457

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000433457.2

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

#	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: Apr 9, 2023

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