rs4727
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006757.4(TNNT3):āc.762C>Gā(p.Gly254=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,460,994 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G254G) has been classified as Likely benign.
Frequency
Consequence
NM_006757.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNNT3 | NM_006757.4 | c.762C>G | p.Gly254= | synonymous_variant | 16/16 | ENST00000278317.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNNT3 | ENST00000278317.11 | c.762C>G | p.Gly254= | synonymous_variant | 16/16 | 5 | NM_006757.4 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247790Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134540
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1460994Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726788
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at