rs775225695
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PP2PP3_Moderate
The NM_001267550.2(TTN):c.44425G>T(p.Val14809Leu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000646 in 1,546,818 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V14809M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001267550.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.44425G>T | p.Val14809Leu | missense_variant, splice_region_variant | 241/363 | ENST00000589042.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.44425G>T | p.Val14809Leu | missense_variant, splice_region_variant | 241/363 | 5 | NM_001267550.2 | P1 | |
TTN-AS1 | ENST00000659121.1 | n.502+27715C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00000660 AC: 1AN: 151510Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000509 AC: 1AN: 196296Hom.: 0 AF XY: 0.00000926 AC XY: 1AN XY: 107980
GnomAD4 exome AF: 0.00000645 AC: 9AN: 1395308Hom.: 0 Cov.: 30 AF XY: 0.0000116 AC XY: 8AN XY: 691620
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151510Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 73938
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at