NM_001267550.2:c.29325C>T
Variant summary
Our verdict is Benign. The variant received -11 ACMG points: 0P and 11B. BP4_ModerateBP6_Very_StrongBP7
The NM_001267550.2(TTN):c.29325C>T(p.Asn9775Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000961 in 1,613,726 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
Publications
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ACMG classification
Our verdict: Benign. The variant received -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.29325C>T | p.Asn9775Asn | synonymous_variant | Exon 102 of 363 | ENST00000589042.5 | NP_001254479.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.29325C>T | p.Asn9775Asn | synonymous_variant | Exon 102 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 151986Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000161 AC: 40AN: 249174 AF XY: 0.000148 show subpopulations
GnomAD4 exome AF: 0.0000951 AC: 139AN: 1461622Hom.: 0 Cov.: 31 AF XY: 0.0000935 AC XY: 68AN XY: 727082 show subpopulations
GnomAD4 genome AF: 0.000105 AC: 16AN: 152104Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74348 show subpopulations
ClinVar
Submissions by phenotype
not specified Benign:2
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not provided Benign:2
TTN: BP4, BP7 -
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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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Autosomal recessive limb-girdle muscular dystrophy type 2J;C1838244:Tibial muscular dystrophy;C1858763:Dilated cardiomyopathy 1G;C1861065:Hypertrophic cardiomyopathy 9;C1863599:Myopathy, myofibrillar, 9, with early respiratory failure;C2673677: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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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at