rs397517610
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6_Very_StrongBP7
The NM_001267550.2(TTN):c.52557C>T(p.Val17519Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,612,238 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 (★★).
Frequency
Consequence
NM_001267550.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.52557C>T | p.Val17519Val | synonymous_variant | Exon 275 of 363 | ENST00000589042.5 | NP_001254479.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.52557C>T | p.Val17519Val | synonymous_variant | Exon 275 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151874Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000809 AC: 2AN: 247152Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134040
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1460364Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 726432
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151874Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74156
ClinVar
Submissions by phenotype
not specified Benign:1
Val14951Val in exon 224 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Val14951Val in exon 224 of TTN (allele freq uency = n/a) -
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at