rs397517545
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001267550.2(TTN):c.33911-7T>C variant causes a splice region, splice polypyrimidine tract, intron change. The variant allele was found at a frequency of 0.0000075 in 1,599,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_001267550.2 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.33911-7T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000589042.5 | NP_001254479.2 | |||
LOC124906100 | XR_007087318.1 | n.2185+33714A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.33911-7T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001267550.2 | ENSP00000467141 | P1 | |||
TTN-AS1 | ENST00000659121.1 | n.503-56289A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151432Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000210 AC: 5AN: 238094Hom.: 0 AF XY: 0.0000155 AC XY: 2AN XY: 129034
GnomAD4 exome AF: 0.00000622 AC: 9AN: 1447516Hom.: 0 Cov.: 31 AF XY: 0.00000695 AC XY: 5AN XY: 719728
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151552Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74090
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Apr 13, 2012 | The 30179-7T>C variant (TTN) has not been reported in the literature nor previou sly identified by our laboratory. This variant is located in the 3' splice regi on. Computational tools do not predict altered splicing; however, this informati on is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant. - |
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 27, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at