2-178713381-TACAAAACAAAACAAA-TACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001267550.2(TTN):c.26762-10_26762-9insTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,014 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001267550.2 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.26762-10_26762-9insTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT | splice_polypyrimidine_tract_variant, intron_variant | ENST00000589042.5 | |||
LOC124906100 | XR_007087318.1 | n.2186-342_2186-341insCAAAACAAAACAAAACAAAACAAAACAAAACAAAA | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.26762-10_26762-9insTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT | splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001267550.2 | P1 | |||
TTN-AS1 | ENST00000659121.1 | n.503-21092_503-21091insCAAAACAAAACAAAACAAAACAAAACAAAACAAAA | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150898Hom.: 0 Cov.: 24
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000106 AC: 14AN: 1318030Hom.: 0 Cov.: 33 AF XY: 0.0000109 AC XY: 7AN XY: 641896
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151014Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 73706
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at