8-11703892-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001308094.2(GATA4):c.-6+3114G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0048 in 152,334 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001308094.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GATA4 | ENST00000532977.1 | c.-458+3114G>C | intron_variant | Intron 2 of 2 | 1 | ENSP00000473671.1 | ||||
GATA4 | ENST00000528712.5 | c.-6+3114G>C | intron_variant | Intron 2 of 6 | 2 | ENSP00000435043.1 | ||||
GATA4 | ENST00000526974.1 | c.-458+3114G>C | intron_variant | Intron 2 of 2 | 2 | ENSP00000473598.1 |
Frequencies
GnomAD3 genomes AF: 0.00478 AC: 727AN: 152216Hom.: 11 Cov.: 33
GnomAD4 genome AF: 0.00480 AC: 731AN: 152334Hom.: 11 Cov.: 33 AF XY: 0.00458 AC XY: 341AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:1
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GATA4-related disorder Benign:1
This variant is classified as 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