NM_032638.5(GATA2):c.345dup (p.Trp116fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 11, 2018
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:: RCV000599375.1

Allele description [Variation Report for NM_032638.5(GATA2):c.345dup (p.Trp116fs)]

NM_032638.5(GATA2):c.345dup (p.Trp116fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_032638.5(GATA2):c.345dup (p.Trp116fs)

HGVS:

NC_000003.12:g.128486256dup
NG_029334.1:g.11935dup
NM_001145661.2:c.345dup
NM_001145662.1:c.345dup
NM_032638.5:c.345dupMANE SELECT
NP_001139133.1:p.Trp116fs
NP_001139134.1:p.Trp116fs
NP_116027.2:p.Trp116fs
LRG_295:g.11935dup
NC_000003.11:g.128205099dup
NM_032638.4:c.345dupC

Protein change:

W116fs

Links:

dbSNP: rs1553771050

NCBI 1000 Genomes Browser:

rs1553771050

Molecular consequence:

NM_001145661.2:c.345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145662.1:c.345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032638.5:c.345dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710424	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 11, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710424

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 11, 2018)

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, SCV000710424.2

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

Description

The c.345dupC variant in the GATA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Tryptophan 116, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 69 of the new reading frame, denoted p.Trp116LeufsX69. The c.345dupC variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.345dupC as a pathogenic variant.

#	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: Apr 23, 2022

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