rs387906630
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_032638.5(GATA2):c.761C>T(p.Pro254Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P254R) has been classified as Uncertain significance.
Frequency
Consequence
NM_032638.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GATA2 | NM_001145661.2 | c.761C>T | p.Pro254Leu | missense_variant | 4/7 | ENST00000487848.6 | |
GATA2 | NM_032638.5 | c.761C>T | p.Pro254Leu | missense_variant | 3/6 | ENST00000341105.7 | |
GATA2 | NM_001145662.1 | c.761C>T | p.Pro254Leu | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GATA2 | ENST00000341105.7 | c.761C>T | p.Pro254Leu | missense_variant | 3/6 | 1 | NM_032638.5 | P1 | |
GATA2 | ENST00000487848.6 | c.761C>T | p.Pro254Leu | missense_variant | 4/7 | 1 | NM_001145661.2 | P1 | |
GATA2 | ENST00000430265.6 | c.761C>T | p.Pro254Leu | missense_variant | 3/6 | 1 | |||
GATA2 | ENST00000696466.1 | c.1043C>T | p.Pro348Leu | missense_variant | 5/8 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Monocytopenia with susceptibility to infections Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Sep 08, 2011 | - - |
Deafness-lymphedema-leukemia syndrome;CN300066:GATA2 deficiency with susceptibility to MDS/AML Uncertain:1
Uncertain significance, criteria provided, single submitter | curation | Molecular Pathology Research Laboratory, SA Pathology | Jul 06, 2021 | PS4_Supporting, PM2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at