NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del AND Myelodysplastic syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001252666.1

Allele description [Variation Report for NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del]

NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Preferred name:
NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del
HGVS:

Condition(s)

Name:
Myelodysplastic syndrome (MDS)
Synonyms:
MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO; Myelodysplastic syndrome, somatic
Identifiers:
MONDO: MONDO:0018881; MeSH: D009190; MedGen: C3463824; Orphanet: 52688; OMIM: 614286

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001252686Godley laboratory, The University of Chicagocriteria provided, single submitter
Likely pathogenic
(May 21, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Godley laboratory, The University of Chicago, SCV001252686.1

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

Description

This heterozygous deletion of exon 4 of GATA2 was identified in germline in a 22-year old female with MDS-U and leukocytoclastic vasculitis. The exact breakpoints and thus the impact on the reading frame are unknown but it does lead to deletion of exon 4 which encodes zinc finger 2, a critical functional domain. The variant segregates with disease in her brother who was diagnosed with MDS in his 20s. The following ACMC/AMP criteria were used: PVS1_strong, PM2.

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

Last Updated: Oct 7, 2021

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