rs151335428
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS1
The NM_001267550.2(TTN):c.55929A>G(p.Gln18643Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00013 in 1,613,020 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 -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.55929A>G | p.Gln18643Gln | synonymous_variant | Exon 288 of 363 | ENST00000589042.5 | NP_001254479.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.55929A>G | p.Gln18643Gln | synonymous_variant | Exon 288 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 |
Frequencies
GnomAD3 genomes AF: 0.000665 AC: 101AN: 151926Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000177 AC: 44AN: 248056Hom.: 0 AF XY: 0.000119 AC XY: 16AN XY: 134508
GnomAD4 exome AF: 0.0000732 AC: 107AN: 1460976Hom.: 0 Cov.: 32 AF XY: 0.0000564 AC XY: 41AN XY: 726774
GnomAD4 genome AF: 0.000671 AC: 102AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.000700 AC XY: 52AN XY: 74326
ClinVar
Submissions by phenotype
not specified Benign:4
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p.Gln16075Gln in exon 237 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.3% (29/9770) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs151335428). -
not provided Benign:4
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TTN-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Autosomal recessive limb-girdle muscular dystrophy type 2J Benign:1
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Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Benign:1
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Early-onset myopathy with fatal cardiomyopathy Benign:1
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Tibial muscular dystrophy Benign:1
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Myopathy, myofibrillar, 9, with early respiratory failure Benign:1
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Cardiovascular phenotype Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at