NM_032638.5(GATA2):c.1160_1165del (p.Thr387_Met388del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 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:: RCV001774785.2

Allele description [Variation Report for NM_032638.5(GATA2):c.1160_1165del (p.Thr387_Met388del)]

NM_032638.5(GATA2):c.1160_1165del (p.Thr387_Met388del)

Gene:

GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_032638.5(GATA2):c.1160_1165del (p.Thr387_Met388del)

HGVS:

NC_000003.12:g.128481300_128481305del
NG_029334.1:g.16886_16891del
NM_001145661.2:c.1160_1165del
NM_001145662.1:c.1118_1123del
NM_032638.5:c.1160_1165delMANE SELECT
NP_001139133.1:p.Thr387_Met388del
NP_001139134.1:p.Thr373_Met374del
NP_116027.2:p.Thr387_Met388del
LRG_295t2:c.1160_1165del
LRG_295:g.16886_16891del
NC_000003.11:g.128200143_128200148del
NM_032638.4:c.1160_1165del

Links:

dbSNP: rs2107668101

NCBI 1000 Genomes Browser:

rs2107668101

Molecular consequence:

NM_001145661.2:c.1160_1165del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001145662.1:c.1118_1123del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_032638.5:c.1160_1165del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV002004057	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 9, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002004057

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 9, 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, SCV002004057.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in a patient with myelofibrosis, however germline status was not confirmed (Patel 2015); This variant is associated with the following publications: (PMID: 26124496)

#	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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