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NM_032638.5(GATA2):c.323C>T (p.Ala108Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 13, 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:
RCV003812591.1

Allele description

NM_032638.5(GATA2):c.323C>T (p.Ala108Val)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.323C>T (p.Ala108Val)
HGVS:
  • NC_000003.12:g.128486275G>A
  • NG_029334.1:g.11913C>T
  • NM_001145661.2:c.323C>T
  • NM_001145662.1:c.323C>T
  • NM_032638.5:c.323C>TMANE SELECT
  • NP_001139133.1:p.Ala108Val
  • NP_001139133.1:p.Ala108Val
  • NP_001139134.1:p.Ala108Val
  • NP_116027.2:p.Ala108Val
  • NP_116027.2:p.Ala108Val
  • LRG_295t1:c.323C>T
  • LRG_295t2:c.323C>T
  • LRG_295:g.11913C>T
  • LRG_295p1:p.Ala108Val
  • LRG_295p2:p.Ala108Val
  • NC_000003.11:g.128205118G>A
  • NM_001145661.1:c.323C>T
  • NM_032638.4:c.323C>T
Protein change:
A108V
Molecular consequence:
  • NM_001145661.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004608243Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV004608243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GATA2 protein function. 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 sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 108 of the GATA2 protein (p.Ala108Val).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024