NM_022552.5(DNMT3A):c.2622T>A (p.Tyr874Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 8, 2019
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:: RCV001755340.2

Allele description [Variation Report for NM_022552.5(DNMT3A):c.2622T>A (p.Tyr874Ter)]

NM_022552.5(DNMT3A):c.2622T>A (p.Tyr874Ter)

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.2622T>A (p.Tyr874Ter)

HGVS:

NC_000002.12:g.25234396A>T
NG_029465.2:g.113195T>A
NM_001320893.1:c.2166T>A
NM_001375819.1:c.1953T>A
NM_022552.5:c.2622T>AMANE SELECT
NM_153759.3:c.2055T>A
NM_175629.2:c.2622T>A
NP_001307822.1:p.Tyr722Ter
NP_001362748.1:p.Tyr651Ter
NP_072046.2:p.Tyr874Ter
NP_715640.2:p.Tyr685Ter
NP_783328.1:p.Tyr874Ter
LRG_459t2:c.2055T>A
LRG_459t4:c.2622T>A
LRG_459:g.113195T>A
LRG_459p2:p.Tyr685Ter
LRG_459p4:p.Tyr874Ter
NC_000002.11:g.25457265A>T
NR_135490.2:n.3052T>A

Protein change:

Y651*

Links:

dbSNP: rs770134132

NCBI 1000 Genomes Browser:

rs770134132

Molecular consequence:

NR_135490.2:n.3052T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001320893.1:c.2166T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001375819.1:c.1953T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_022552.5:c.2622T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_153759.3:c.2055T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_175629.2:c.2622T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002005486	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 8, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002005486

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 8, 2019)

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, SCV002005486.2

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

Description

Reported in association with acute myeloid leukemia (Gale et al., 2015); Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27458708, 25964253)

#	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: Dec 24, 2023

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