8-11704309-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001308093.3(GATA4):c.-458+5G>A variant causes a splice donor 5th base, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0531 in 152,368 control chromosomes in the GnomAD database, including 306 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001308093.3 splice_donor_5th_base, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GATA4 | NM_001308093.3 | c.-458+5G>A | splice_donor_5th_base_variant, intron_variant | ENST00000532059.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GATA4 | ENST00000532059.6 | c.-458+5G>A | splice_donor_5th_base_variant, intron_variant | 1 | NM_001308093.3 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0533 AC: 8106AN: 152200Hom.: 308 Cov.: 33
GnomAD4 exome AF: 0.0400 AC: 2AN: 50Hom.: 0 Cov.: 0 AF XY: 0.0278 AC XY: 1AN XY: 36
GnomAD4 genome AF: 0.0532 AC: 8096AN: 152318Hom.: 306 Cov.: 33 AF XY: 0.0530 AC XY: 3948AN XY: 74470
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | Feb 11, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at