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NM_032638.5(GATA2):c.1113del (p.Asn371fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 6, 2021
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:
RCV001542126.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1113del (p.Asn371fs)]

NM_032638.5(GATA2):c.1113del (p.Asn371fs)

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.1113del (p.Asn371fs)
HGVS:
  • NC_000003.12:g.128481849del
  • NG_029334.1:g.16339del
  • NM_001145661.2:c.1113del
  • NM_001145662.1:c.1071del
  • NM_032638.5:c.1113delMANE SELECT
  • NP_001139133.1:p.Asn371fs
  • NP_001139134.1:p.Asn357fs
  • NP_116027.2:p.Asn371fs
  • LRG_295:g.16339del
  • NC_000003.11:g.128200692del
Protein change:
N357fs
Links:
dbSNP: rs2107668634
NCBI 1000 Genomes Browser:
rs2107668634
Molecular consequence:
  • NM_001145661.2:c.1113del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145662.1:c.1071del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032638.5:c.1113del - frameshift variant - [Sequence Ontology: SO:0001589]

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:
GATA2 deficiency with susceptibility to MDS/AML
Identifiers:
MONDO: MONDO:0042982; MedGen: CN300066

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760794Molecular Pathology Research Laboratory, SA Pathology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 6, 2021) 		unknowncuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedcuration

Citations

PubMed

Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations.

Hofmann I, Avagyan S, Stetson A, Guo D, Al-Sayegh H, London WB, Lehmann L.

Biol Blood Marrow Transplant. 2020 Jun;26(6):1124-1130. doi: 10.1016/j.bbmt.2020.02.015. Epub 2020 Feb 20.

PubMed [citation]
PMID:
32088370
PMCID:
PMC7276093

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760794.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (2)

Description

PVS1, PS4_Supporting, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2023