chr3-128481963-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_032638.5(GATA2):c.1018-19C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.18 in 1,611,562 control chromosomes in the GnomAD database, including 27,415 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_032638.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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GATA2 | NM_032638.5 | c.1018-19C>T | intron_variant | Intron 4 of 5 | ENST00000341105.7 | NP_116027.2 | ||
GATA2 | NM_001145661.2 | c.1018-19C>T | intron_variant | Intron 5 of 6 | NP_001139133.1 | |||
GATA2 | NM_001145662.1 | c.1018-61C>T | intron_variant | Intron 4 of 5 | NP_001139134.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.174 AC: 26426AN: 151922Hom.: 2467 Cov.: 33
GnomAD3 exomes AF: 0.156 AC: 38589AN: 246728Hom.: 3336 AF XY: 0.156 AC XY: 20902AN XY: 134120
GnomAD4 exome AF: 0.181 AC: 263459AN: 1459522Hom.: 24947 Cov.: 34 AF XY: 0.177 AC XY: 128671AN XY: 726092
GnomAD4 genome AF: 0.174 AC: 26441AN: 152040Hom.: 2468 Cov.: 33 AF XY: 0.171 AC XY: 12692AN XY: 74324
ClinVar
Submissions by phenotype
not specified Benign:7
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This variant is classified as Benign based on local population frequency. This variant was detected in 24% of patients studied by a panel of primary immunodeficiencies. Number of patients: 23. Only high quality variants are reported. -
not provided Benign:3
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Monocytopenia with susceptibility to infections Benign:1
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Deafness-lymphedema-leukemia syndrome;C3280030:Monocytopenia with susceptibility to infections Benign:1
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Deafness-lymphedema-leukemia syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at