2-178769701-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001267550.2(TTN):c.8880C>A(p.Val2960=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. V2960V) has been classified as Likely benign.
Frequency
Consequence
NM_001267550.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.8880C>A | p.Val2960= | synonymous_variant | 37/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.8880C>A | p.Val2960= | synonymous_variant | 37/46 | ENST00000360870.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.8880C>A | p.Val2960= | synonymous_variant | 37/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.8880C>A | p.Val2960= | synonymous_variant | 37/46 | 5 | NM_133379.5 | ||
TTN-AS1 | ENST00000659121.1 | n.1593-3574G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461224Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726894
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at