8-11703279-A-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_001308094.2(GATA4):c.-6+2501A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000789 in 152,018 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 (no stars).
Frequency
Consequence
NM_001308094.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GATA4 | ENST00000532977.1 | c.-458+2501A>G | intron_variant | Intron 2 of 2 | 1 | ENSP00000473671.1 | ||||
GATA4 | ENST00000528712.5 | c.-6+2501A>G | intron_variant | Intron 2 of 6 | 2 | ENSP00000435043.1 | ||||
GATA4 | ENST00000526974.1 | c.-458+2501A>G | intron_variant | Intron 2 of 2 | 2 | ENSP00000473598.1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152018Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152018Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74230
ClinVar
Submissions by phenotype
GATA4-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at