rs777085715
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_ModerateBS2
The NM_001267550.2(TTN):āc.36466G>Cā(p.Glu12156Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000049 in 1,613,438 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Synonymous variant affecting the same amino acid position (i.e. E12156E) has been classified as Likely benign.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.36466G>C | p.Glu12156Gln | missense_variant | 171/363 | ENST00000589042.5 | |
LOC124906100 | XR_007087318.1 | n.2185+19192C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.36466G>C | p.Glu12156Gln | missense_variant | 171/363 | 5 | NM_001267550.2 | P1 | |
TTN-AS1 | ENST00000659121.1 | n.502+66012C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151842Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000567 AC: 14AN: 246760Hom.: 0 AF XY: 0.0000893 AC XY: 12AN XY: 134336
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1461596Hom.: 2 Cov.: 34 AF XY: 0.0000674 AC XY: 49AN XY: 727080
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151842Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74164
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | research | Biesecker Lab/Clinical Genomics Section, National Institutes of Health | Jun 24, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at