chr1-74235485-TGTACTG-T
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Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_015978.3(TNNI3K):c.38_40+3del variant causes a inframe deletion, splice region change. The variant allele was found at a frequency of 0.00000152 in 1,312,220 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0000015 ( 0 hom. )
Consequence
TNNI3K
NM_015978.3 inframe_deletion, splice_region
NM_015978.3 inframe_deletion, splice_region
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 5.95
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 Uncertain_significance. Variant got 4 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PM4
Nonframeshift variant in NON repetitive region in NM_015978.3.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNNI3K | NM_015978.3 | c.38_40+3del | inframe_deletion, splice_region_variant | 1/25 | ENST00000326637.8 | ||
FPGT-TNNI3K | NM_001112808.3 | c.344-613_344-608del | intron_variant | ||||
FPGT-TNNI3K | NM_001199327.2 | c.344-613_344-608del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNNI3K | ENST00000326637.8 | c.38_40+3del | inframe_deletion, splice_region_variant | 1/25 | 1 | NM_015978.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
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GnomAD3 exomes AF: 0.00000451 AC: 1AN: 221658Hom.: 0 AF XY: 0.00000826 AC XY: 1AN XY: 121022
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GnomAD4 exome AF: 0.00000152 AC: 2AN: 1312220Hom.: 0 AF XY: 0.00000303 AC XY: 2AN XY: 659570
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GnomAD4 genome Cov.: 32
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Oct 13, 2023 | This variant, c.38_40+3del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the TNNI3K protein (Splice site). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with TNNI3K-related conditions. This variant is also known as c.38_40+3del. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at