NM_001278669.2:c.2783-9809G>C
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 2P and 8B. PM2BP4_StrongBS2
The NM_001278669.2(NFATC1):c.2783-9809G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000329 in 152,126 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001278669.2 intron
Scores
Clinical Significance
Conservation
Publications
- congenital heart diseaseInheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152008Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152126Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74366 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at