rs1247813
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_015978.3(TNNI3K):c.2011+10622G>A variant causes a intron change. The variant allele was found at a frequency of 0.00723 in 151,400 control chromosomes in the GnomAD database, including 9 homozygotes. 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
Genomes: 𝑓 0.0072 ( 9 hom., cov: 26)
Consequence
TNNI3K
NM_015978.3 intron
NM_015978.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
No conservation score assigned
Genes affected
TNNI3K (HGNC:19661): (TNNI3 interacting kinase) This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.98).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00723 (1095/151400) while in subpopulation AFR AF= 0.0247 (1016/41216). AF 95% confidence interval is 0.0234. There are 9 homozygotes in gnomad4. There are 518 alleles in male gnomad4 subpopulation. Median coverage is 26. This position pass quality control queck.
BS2
?
High AC in GnomAd at 1093 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNNI3K | NM_015978.3 | c.2011+10622G>A | intron_variant | ENST00000326637.8 | |||
FPGT-TNNI3K | NM_001112808.3 | c.2314+10622G>A | intron_variant | ||||
FPGT-TNNI3K | NM_001199327.2 | c.2314+10622G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNNI3K | ENST00000326637.8 | c.2011+10622G>A | intron_variant | 1 | NM_015978.3 | P1 | |||
TNNI3K | ENST00000370889.2 | n.558+10622G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00722 AC: 1093AN: 151284Hom.: 9 Cov.: 26
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.00723 AC: 1095AN: 151400Hom.: 9 Cov.: 26 AF XY: 0.00701 AC XY: 518AN XY: 73942
GnomAD4 genome
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at