chr8-11757059-C-G
Variant summary
Our verdict is Likely pathogenic. The variant received 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_001308093.3(GATA4):c.1125C>G(p.Tyr375*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,250 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Y375Y) has been classified as Likely benign.
Frequency
Consequence
NM_001308093.3 stop_gained
Scores
Clinical Significance
Conservation
Publications
- atrial septal defect 2Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae)
- structural congenital heart disease, multiple types - GATA4Inheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- testicular anomalies with or without congenital heart diseaseInheritance: AD Classification: DEFINITIVE Submitted by: Ambry Genetics
- metabolic syndromeInheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
- neonatal diabetes mellitusInheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
- pancreatic hypoplasia-diabetes-congenital heart disease syndromeInheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
- permanent neonatal diabetes mellitusInheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
- transient neonatal diabetes mellitusInheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
- 46,XY partial gonadal dysgenesisInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- familial atrial fibrillationInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- tetralogy of fallotInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- dilated cardiomyopathyInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Likely_pathogenic. The variant received 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74380 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at