chr2-178532010-C-T
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 0P and 3B. BP4_ModerateBP6
The NM_001267550.2(TTN):c.104605G>A(p.Glu34869Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000341 in 1,613,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.104605G>A | p.Glu34869Lys | missense_variant | Exon 358 of 363 | ENST00000589042.5 | NP_001254479.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.104605G>A | p.Glu34869Lys | missense_variant | Exon 358 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152088Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000362 AC: 9AN: 248810 AF XY: 0.0000148 show subpopulations
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461594Hom.: 0 Cov.: 40 AF XY: 0.0000179 AC XY: 13AN XY: 727072 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000125 AC: 19AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74416 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not provided Uncertain:2
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BP4 -
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
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not specified Benign:1
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. -
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