NM_000363.5:c.372+8G>T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS1
The NM_000363.5(TNNI3):c.372+8G>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 0.0000211 in 1,613,550 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Likely benign (★).
Frequency
Consequence
NM_000363.5 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNNI3 | ENST00000344887.10 | c.372+8G>T | splice_region_variant, intron_variant | Intron 6 of 7 | 1 | NM_000363.5 | ENSP00000341838.5 | |||
ENSG00000267110 | ENST00000587871.1 | n.*482G>T | downstream_gene_variant | 5 | ENSP00000473050.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152238Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249030Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135162
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461312Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726970
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152238Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74370
ClinVar
Submissions by phenotype
Hypertrophic cardiomyopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at