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NM_032638.5(GATA2):c.933C>A (p.Thr311=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 20, 2024
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:
RCV005340952.1

Allele description [Variation Report for NM_032638.5(GATA2):c.933C>A (p.Thr311=)]

NM_032638.5(GATA2):c.933C>A (p.Thr311=)

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.933C>A (p.Thr311=)
HGVS:
  • NC_000003.12:g.128483944G>T
  • NG_029334.1:g.14244C>A
  • NM_001145661.2:c.933C>A
  • NM_001145662.1:c.933C>A
  • NM_032638.4:c.933C>A
  • NM_032638.5:c.933C>AMANE SELECT
  • NP_001139133.1:p.Thr311=
  • NP_001139134.1:p.Thr311=
  • NP_116027.2:p.Thr311=
  • LRG_295t2:c.933C>A
  • LRG_295:g.14244C>A
  • NC_000003.11:g.128202787G>T
Links:
dbSNP: rs774280897
NCBI 1000 Genomes Browser:
rs774280897
Molecular consequence:
  • NM_001145661.2:c.933C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001145662.1:c.933C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032638.5:c.933C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV006007600Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 20, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV006007600.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Dec 7, 2025