10-8073874-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001002295.2(GATA3):c.1186G>T(p.Ala396Ser) 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. A396T) has been classified as Likely benign.
Frequency
Consequence
NM_001002295.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GATA3 | NM_001002295.2 | c.1186G>T | p.Ala396Ser | missense_variant | 6/6 | ENST00000379328.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GATA3 | ENST00000379328.9 | c.1186G>T | p.Ala396Ser | missense_variant | 6/6 | 1 | NM_001002295.2 | A1 | |
GATA3 | ENST00000346208.4 | c.1183G>T | p.Ala395Ser | missense_variant | 6/6 | 1 | P4 | ||
GATA3 | ENST00000461472.1 | c.*131G>T | 3_prime_UTR_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at