NM_032638.5(GATA2):c.803_804insGGGCCACCCCGG (p.His266_Gly269dup) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 22, 2022
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:: RCV001940310.6

Allele description [Variation Report for NM_032638.5(GATA2):c.803_804insGGGCCACCCCGG (p.His266_Gly269dup)]

NM_032638.5(GATA2):c.803_804insGGGCCACCCCGG (p.His266_Gly269dup)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_032638.5(GATA2):c.803_804insGGGCCACCCCGG (p.His266_Gly269dup)

HGVS:

NC_000003.12:g.128485803_128485804insCCCCCGGGGTGG
NG_029334.1:g.12393_12394insGGGCCACCCCGG
NM_001145661.2:c.803_804insGGGCCACCCCGG
NM_001145662.1:c.803_804insGGGCCACCCCGG
NM_032638.5:c.803_804insGGGCCACCCCGGMANE SELECT
NP_001139133.1:p.His266_Gly269dup
NP_001139134.1:p.His266_Gly269dup
NP_116027.2:p.His266_Gly269dup
LRG_295:g.12393_12394insGGGCCACCCCGG
NC_000003.11:g.128204637_128204638insCCGGGGTGGCCC
NC_000003.11:g.128204646_128204647insCCCCCGGGGTGG

Links:

dbSNP: rs2068686773

NCBI 1000 Genomes Browser:

rs2068686773

Molecular consequence:

NM_001145661.2:c.803_804insGGGCCACCCCGG - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001145662.1:c.803_804insGGGCCACCCCGG - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_032638.5:c.803_804insGGGCCACCCCGG - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Deafness-lymphedema-leukemia syndrome
Synonyms:: Lymphedema, primary, with myelodysplasia; Emberger syndrome
Identifiers:: MONDO: MONDO:0013540; MedGen: C3279664; Orphanet: 3226; OMIM: 614038

Name:: Monocytopenia with susceptibility to infections
Synonyms:: MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013607; MedGen: C3280030; Orphanet: 228423; OMIM: 614172

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Rpusd2 RNA pseudouridylate synthase domain containing 2 [Mus musculus]
Rpusd2 RNA pseudouridylate synthase domain containing 2 [Mus musculus]
Gene ID:271842

Gene
271842[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002190982	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002190982

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 22, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002190982.3

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

Description

Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1417964). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.803_804insGGGCCACCCCGG, results in the insertion of 4 amino acid(s) of the GATA2 protein (p.His266_Gly269dup), but otherwise preserves the integrity of the reading frame.

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

Last Updated: Sep 29, 2024

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