NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 18, 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:: RCV001776076.4

Allele description [Variation Report for NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)]

NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)

HGVS:

NC_000002.12:g.25240420T>C
NG_029465.2:g.107171A>G
NM_001320893.1:c.1748A>G
NM_001375819.1:c.1535A>G
NM_022552.5:c.2204A>GMANE SELECT
NM_153759.3:c.1637A>G
NM_175629.2:c.2204A>G
NP_001307822.1:p.Tyr583Cys
NP_001362748.1:p.Tyr512Cys
NP_072046.2:p.Tyr735Cys
NP_072046.2:p.Tyr735Cys
NP_715640.2:p.Tyr546Cys
NP_783328.1:p.Tyr735Cys
LRG_459t1:c.2204A>G
LRG_459t2:c.1637A>G
LRG_459t4:c.2204A>G
LRG_459:g.107171A>G
LRG_459p1:p.Tyr735Cys
LRG_459p2:p.Tyr546Cys
LRG_459p4:p.Tyr735Cys
NC_000002.11:g.25463289T>C
NM_022552.4:c.2204A>G
NM_022552.5:c.2204A>G
NR_135490.2:n.2435A>G

Protein change:

Y512C

Links:

dbSNP: rs147828672

NCBI 1000 Genomes Browser:

rs147828672

Molecular consequence:

NM_001320893.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375819.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022552.5:c.2204A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153759.3:c.1637A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_175629.2:c.2204A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_135490.2:n.2435A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002013768	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Nov 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002013768

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Nov 18, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002013768.4

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

Description

Identified in a patient with Hodgkin lymphoma and a diagnosis of DNMT3A overgrowth syndrome, however, segregation, testing methodology, and additional clinical information were not provided (PMID: 34788385); Identified in at least one patient with autism; however, specific clinical information and presence of other possible variants was not provided (PMID: 31332282); Identified in multiple patients with acute myeloid leukemia, including as a somatic variant; however, specific clinical information was not provided (PMID: 21993668, 25964253, 31861499); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25964253, 31861499, 31785789, 31981491, 32581362, 25363760, 33238114, 34315901, 31974359, 35191116, 31988276, 32512379, 36353970, 32269971, 33832284, 36657266, 36013314, 34788385, 31332282, 21993668)

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine