chr3-128485769-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_032638.5(GATA2):c.829A>C(p.Ser277Arg) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S277G) has been classified as Likely benign.
Frequency
Consequence
NM_032638.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GATA2 | NM_001145661.2 | c.829A>C | p.Ser277Arg | missense_variant | 4/7 | ENST00000487848.6 | NP_001139133.1 | |
GATA2 | NM_032638.5 | c.829A>C | p.Ser277Arg | missense_variant | 3/6 | ENST00000341105.7 | NP_116027.2 | |
GATA2 | NM_001145662.1 | c.829A>C | p.Ser277Arg | missense_variant | 3/6 | NP_001139134.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GATA2 | ENST00000341105.7 | c.829A>C | p.Ser277Arg | missense_variant | 3/6 | 1 | NM_032638.5 | ENSP00000345681 | P1 | |
GATA2 | ENST00000487848.6 | c.829A>C | p.Ser277Arg | missense_variant | 4/7 | 1 | NM_001145661.2 | ENSP00000417074 | P1 | |
GATA2 | ENST00000430265.6 | c.829A>C | p.Ser277Arg | missense_variant | 3/6 | 1 | ENSP00000400259 | |||
GATA2 | ENST00000696466.1 | c.1111A>C | p.Ser371Arg | missense_variant | 5/8 | ENSP00000512647 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at