rs971128233

Variant names:

Variant summary

Our verdict is Benign. The variant received -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2

The NM_032638.5(GATA2):c.1302T>G(p.Ala434Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,614,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).

Frequency

Genomes: 𝑓 0.000053 ( 0 hom., cov: 33)

Exomes 𝑓: 0.0000014 ( 0 hom. )

Consequence

GATA2
NM_032638.5 synonymous

Scores

Clinical Significance

Likely benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -2.17

Publications

0 publications found

Variant links:

Genes affected

GATA2 (HGNC:4171): (GATA binding protein 2) This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

GATA2 Gene-Disease associations (from GenCC):

deafness-lymphedema-leukemia syndrome
Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P, Genomics England PanelApp
GATA2 deficiency with susceptibility to MDS/AML
Inheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
monocytopenia with susceptibility to infections
Inheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: Orphanet, Ambry Genetics
acute myeloid leukemia
Inheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
myelodysplastic syndrome
Inheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp

GATA2 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -17 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.83).

BP6

Variant 3-128481160-A-C is Benign according to our data. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr3-128481160-A-C is described in CliVar as Likely_benign. Clinvar id is 472442.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BP7

Synonymous conserved (PhyloP=-2.17 with no splicing effect.

BS2

High AC in GnomAd4 at 8 AD gene.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GATA2	NM_032638.5 link	c.1302T>G	p.Ala434Ala	synonymous_variant	Exon 6 of 6	ENST00000341105.7	NP_116027.2	P23769-1
GATA2	NM_001145661.2 link	c.1302T>G	p.Ala434Ala	synonymous_variant	Exon 7 of 7		NP_001139133.1	P23769-1
GATA2	NM_001145662.1 link	c.1260T>G	p.Ala420Ala	synonymous_variant	Exon 6 of 6		NP_001139134.1	P23769-2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GATA2	ENST00000341105.7 link	c.1302T>G	p.Ala434Ala	synonymous_variant	Exon 6 of 6	1	NM_032638.5	ENSP00000345681.2		P23769-1

Frequencies

GnomAD3 genomes

AF:

0.0000526

AC:

AN:

152216

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.000193

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.00

Gnomad OTH

AF:

0.00

GnomAD4 exome

AF:

0.00000137

AC:

AN:

1461892

Hom.:

Cov.:

AF XY:

0.00000275

AC XY:

AN XY:

727248

show subpopulations

African (AFR)

AF:

0.0000597

AC:

AN:

33480

American (AMR)

AF:

0.00

AC:

AN:

44724

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

26136

East Asian (EAS)

AF:

0.00

AC:

AN:

39700

South Asian (SAS)

AF:

0.00

AC:

AN:

86258

European-Finnish (FIN)

AF:

0.00

AC:

AN:

53420

Middle Eastern (MID)

AF:

0.00

AC:

AN:

5768

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

1112010

Other (OTH)

AF:

0.00

AC:

AN:

60396

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.475

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Exome Het

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

GnomAD4 genome

AF:

0.0000526

AC:

AN:

152216

Hom.:

Cov.:

AF XY:

0.0000807

AC XY:

AN XY:

74358

show subpopulations

African (AFR)

AF:

0.000193

AC:

AN:

41460

American (AMR)

AF:

0.00

AC:

AN:

15290

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

3472

East Asian (EAS)

AF:

0.00

AC:

AN:

5194

South Asian (SAS)

AF:

0.00

AC:

AN:

4830

European-Finnish (FIN)

AF:

0.00

AC:

AN:

10622

Middle Eastern (MID)

AF:

0.00

AC:

AN:

316

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

68028

Other (OTH)

AF:

0.00

AC:

AN:

2092

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.500

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.00

Hom.:

Bravo

AF:

0.0000491

ClinVar

Significance: Likely benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

Inborn genetic diseases

Benign:1

Mar 15, 2025

Ambry Genetics

Significance:Likely benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

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. -

Deafness-lymphedema-leukemia syndrome;C3280030:Monocytopenia with susceptibility to infections

Benign:1

Nov 06, 2023

Labcorp Genetics (formerly Invitae), Labcorp

Significance:Likely benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.83

CADD

Benign

0.19

(source)

DANN

Benign

0.45

PhyloP100

-2.2

Mutation Taster

=100/0

polymorphism

(source)

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.0

Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

Age Distribution

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

Other links and lift over