rs189149543
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001267550.2(TTN):c.6041C>T(p.Thr2014Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000429 in 1,613,932 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.6041C>T | p.Thr2014Ile | missense_variant | Exon 28 of 363 | ENST00000589042.5 | NP_001254479.2 | |
TTN | NM_133379.5 | c.6041C>T | p.Thr2014Ile | missense_variant | Exon 28 of 46 | ENST00000360870.10 | NP_596870.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.6041C>T | p.Thr2014Ile | missense_variant | Exon 28 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 | ||
TTN | ENST00000360870.10 | c.6041C>T | p.Thr2014Ile | missense_variant | Exon 28 of 46 | 5 | NM_133379.5 | ENSP00000354117.4 |
Frequencies
GnomAD3 genomes AF: 0.000638 AC: 97AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000949 AC: 238AN: 250920Hom.: 1 AF XY: 0.000929 AC XY: 126AN XY: 135610
GnomAD4 exome AF: 0.000408 AC: 596AN: 1461662Hom.: 5 Cov.: 33 AF XY: 0.000377 AC XY: 274AN XY: 727160
GnomAD4 genome AF: 0.000637 AC: 97AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000900 AC XY: 67AN XY: 74438
ClinVar
Submissions by phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G 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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Cardiovascular phenotype Benign:1
This alteration is classified as 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. -
not provided Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at