2-178654216-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_001267550.2(TTN):c.38372G>A(p.Arg12791His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000689 in 1,596,196 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/12 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.38372G>A | p.Arg12791His | missense_variant | 193/363 | ENST00000589042.5 | NP_001254479.2 | |
LOC124906100 | XR_007087318.1 | n.2185+9715C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.38372G>A | p.Arg12791His | missense_variant | 193/363 | 5 | NM_001267550.2 | ENSP00000467141 | P1 | |
TTN-AS1 | ENST00000659121.1 | n.502+56535C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00000669 AC: 1AN: 149506Hom.: 0 Cov.: 22
GnomAD3 exomes AF: 0.0000171 AC: 4AN: 234122Hom.: 0 AF XY: 0.0000233 AC XY: 3AN XY: 128664
GnomAD4 exome AF: 0.00000691 AC: 10AN: 1446690Hom.: 0 Cov.: 32 AF XY: 0.00000695 AC XY: 5AN XY: 719560
GnomAD4 genome AF: 0.00000669 AC: 1AN: 149506Hom.: 0 Cov.: 22 AF XY: 0.0000138 AC XY: 1AN XY: 72646
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at