8-11708019-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001374274.1(GATA4):c.-3+5G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00243 in 450,872 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001374274.1 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00547 AC: 832AN: 152048Hom.: 6 Cov.: 32
GnomAD4 exome AF: 0.000877 AC: 262AN: 298706Hom.: 1 Cov.: 0 AF XY: 0.000729 AC XY: 117AN XY: 160400
GnomAD4 genome AF: 0.00549 AC: 835AN: 152166Hom.: 6 Cov.: 32 AF XY: 0.00528 AC XY: 393AN XY: 74380
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at