8-11755236-G-C
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001308093.3(GATA4):c.1000+103G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000231 in 914,874 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_001308093.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000749 AC: 114AN: 152184Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000111 AC: 85AN: 762572Hom.: 0 AF XY: 0.000110 AC XY: 44AN XY: 400386
GnomAD4 genome AF: 0.000827 AC: 126AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.000846 AC XY: 63AN XY: 74484
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