NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs) AND Tatton-Brown-Rahman overgrowth syndrome

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000778096.1

Allele description [Variation Report for NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs)]

NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs)

Gene:

DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs)

HGVS:

NC_000002.12:g.25243969del
NG_029465.2:g.103624del
NM_001320893.1:c.1411del
NM_001375819.1:c.1198del
NM_022552.5:c.1867delMANE SELECT
NM_153759.3:c.1300del
NM_175629.2:c.1867del
NP_001307822.1:p.Tyr471fs
NP_001362748.1:p.Tyr400fs
NP_072046.2:p.Tyr623fs
NP_715640.2:p.Tyr434fs
NP_783328.1:p.Tyr623fs
LRG_459t2:c.1300del
LRG_459t4:c.1867del
LRG_459:g.103624del
LRG_459p2:p.Tyr434fs
LRG_459p4:p.Tyr623fs
NC_000002.11:g.25466838del
NM_175629.2:c.1867delT
NR_135490.2:n.2098del

Protein change:

Y400fs

Links:

dbSNP: rs1553412022

NCBI 1000 Genomes Browser:

rs1553412022

Molecular consequence:

NM_001320893.1:c.1411del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375819.1:c.1198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022552.5:c.1867del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153759.3:c.1300del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_175629.2:c.1867del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_135490.2:n.2098del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Tatton-Brown-Rahman overgrowth syndrome
Synonyms:: Tatton-Brown-rahman syndrome; Tall stature-intellectual disability-facial dysmorphism syndrome
Identifiers:: MONDO: MONDO:0014382; MedGen: C4014545; Orphanet: 404443; OMIM: 615879

Recent activity

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carboxypeptidase N catalytic chain precursor [Homo sapiens]
carboxypeptidase N catalytic chain precursor [Homo sapiens]
gi|4503011|ref|NP_001299.1|

Protein
Human DNA sequence from clone RP11-9D14 on chromosome 13, complete sequence
Human DNA sequence from clone RP11-9D14 on chromosome 13, complete sequence
gi|12666292|emb|AL445262.7|

Nucleotide
Endoleak
Endoleak
Postoperative hemorrhage from an endovascular AORTIC ANEURYSM repaired with endoluminal placement of stent grafts (ENDOVASCULAR ANEURYSM REPAIR). It is associated with pressur...<br/>Year introduced: 2011

MeSH
Coronary Aneurysm
Coronary Aneurysm
Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory dis...<br/>Year introduced: 1987

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000914228	Institute of Human Genetics, Cologne University	no assertion criteria provided	Pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000914228

Institute of Human Genetics, Cologne University

no assertion criteria provided

Pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000914228.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	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	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 17, 2023

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