rs3729547
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001276345.2(TNNT2):c.348C>T(p.Ile116Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.714 in 1,613,718 control chromosomes in the GnomAD database, including 413,386 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001276345.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.699 AC: 106151AN: 151904Hom.: 37406 Cov.: 31
GnomAD3 exomes AF: 0.723 AC: 181760AN: 251482Hom.: 66361 AF XY: 0.729 AC XY: 99110AN XY: 135918
GnomAD4 exome AF: 0.716 AC: 1046009AN: 1461696Hom.: 375963 Cov.: 60 AF XY: 0.720 AC XY: 523486AN XY: 727164
GnomAD4 genome AF: 0.699 AC: 106218AN: 152022Hom.: 37423 Cov.: 31 AF XY: 0.705 AC XY: 52359AN XY: 74302
ClinVar
Submissions by phenotype
not specified Benign:8
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Cardiomyopathy Benign:2
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not provided Benign:2
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Hypertrophic cardiomyopathy Benign:2
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Dilated cardiomyopathy 1D Benign:1
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Dilated Cardiomyopathy, Dominant Benign:1
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Left ventricular noncompaction cardiomyopathy Benign:1
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Cardiomyopathy, familial restrictive, 3 Benign:1
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Familial restrictive cardiomyopathy Benign:1
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Hypertrophic cardiomyopathy 2 Benign:1
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Cardiovascular phenotype Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Dilated cardiomyopathy 1D;C1861864:Hypertrophic cardiomyopathy 2;C2676271:Cardiomyopathy, familial restrictive, 3 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at