2-178575150-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001267550.2(TTN):c.70982C>T(p.Pro23661Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,612,366 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★). Synonymous variant affecting the same amino acid position (i.e. P23661P) has been classified as Likely benign.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.70982C>T | p.Pro23661Leu | missense_variant | Exon 326 of 363 | ENST00000589042.5 | NP_001254479.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.70982C>T | p.Pro23661Leu | missense_variant | Exon 326 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151920Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000406 AC: 1AN: 246380 AF XY: 0.00000748 show subpopulations
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1460446Hom.: 0 Cov.: 38 AF XY: 0.0000110 AC XY: 8AN XY: 726442 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151920Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74174 show subpopulations
ClinVar
Submissions by phenotype
not provided Uncertain:3
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Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
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Cardiovascular phenotype Uncertain:1
The p.P14596L variant (also known as c.43787C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 43787. The proline at codon 14596 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at