rs774296358
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_001267550.2(TTN):c.98807G>A(p.Arg32936His) variant causes a missense change. The variant allele was found at a frequency of 0.0000384 in 1,613,580 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R32936C) has been classified as Uncertain significance.
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 | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.98807G>A | p.Arg32936His | missense_variant | 353/363 | ENST00000589042.5 | |
TTN-AS1 | NR_038272.1 | n.1078C>T | non_coding_transcript_exon_variant | 5/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.98807G>A | p.Arg32936His | missense_variant | 353/363 | 5 | NM_001267550.2 | P1 | |
TTN-AS1 | ENST00000659121.1 | n.416+15492C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000921 AC: 14AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000482 AC: 12AN: 248772Hom.: 0 AF XY: 0.0000815 AC XY: 11AN XY: 134924
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461512Hom.: 0 Cov.: 33 AF XY: 0.0000440 AC XY: 32AN XY: 727044
GnomAD4 genome ? AF: 0.0000921 AC: 14AN: 152068Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74260
ClinVar
Submissions by phenotype
not provided Uncertain:2Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | TTN: PM2 - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 10, 2020 | This variant is associated with the following publications: (PMID: 31664938) - |
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Oct 26, 2023 | - - |
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Nov 23, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at