rs150223722
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001267550.2(TTN):c.38929C>T(p.Pro12977Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00616 in 1,611,716 control chromosomes in the GnomAD database, including 66 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.38929C>T | p.Pro12977Ser | missense_variant | Exon 200 of 363 | ENST00000589042.5 | NP_001254479.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.38929C>T | p.Pro12977Ser | missense_variant | Exon 200 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 |
Frequencies
GnomAD3 genomes AF: 0.00393 AC: 598AN: 152042Hom.: 5 Cov.: 31
GnomAD3 exomes AF: 0.00597 AC: 1457AN: 244164Hom.: 17 AF XY: 0.00701 AC XY: 933AN XY: 133074
GnomAD4 exome AF: 0.00639 AC: 9324AN: 1459556Hom.: 61 Cov.: 34 AF XY: 0.00691 AC XY: 5020AN XY: 726064
GnomAD4 genome AF: 0.00395 AC: 601AN: 152160Hom.: 5 Cov.: 31 AF XY: 0.00390 AC XY: 290AN XY: 74376
ClinVar
Submissions by phenotype
not provided Benign:7
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not specified Benign:1
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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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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