rs202000367
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_ModerateBP6_ModerateBS2
The NM_003280.3(TNNC1):c.108C>T(p.Ile36Ile) variant causes a synonymous change. The variant allele was found at a frequency of 0.00000342 in 1,461,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. I36I) has been classified as Likely benign.
Frequency
Consequence
NM_003280.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNNC1 | ENST00000232975.8 | c.108C>T | p.Ile36Ile | synonymous_variant | Exon 3 of 6 | 1 | NM_003280.3 | ENSP00000232975.3 | ||
TNNC1 | ENST00000496590.1 | c.-25C>T | 5_prime_UTR_variant | Exon 2 of 4 | 2 | ENSP00000420596.1 | ||||
TNNC1 | ENST00000461086.1 | n.-209C>T | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251330Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135872
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461700Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727140
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Dilated cardiomyopathy 1Z;C2750472:Hypertrophic cardiomyopathy 13 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at