rs781368765
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP2BP4
The NM_001267550.2(TTN):c.10127C>T(p.Ser3376Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000093 in 1,613,618 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 Uncertain significance (★★). Synonymous variant affecting the same amino acid position (i.e. S3376S) has been classified as Likely benign.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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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.10127C>T | p.Ser3376Leu | missense_variant | 44/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.10127C>T | p.Ser3376Leu | missense_variant | 44/46 | ENST00000360870.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.10127C>T | p.Ser3376Leu | missense_variant | 44/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.10127C>T | p.Ser3376Leu | missense_variant | 44/46 | 5 | NM_133379.5 | ||
TTN-AS1 | ENST00000659121.1 | n.1334+116G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 151992Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249770Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134950
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461626Hom.: 0 Cov.: 39 AF XY: 0.00000550 AC XY: 4AN XY: 727102
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 151992Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74248
ClinVar
Submissions by phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | May 12, 2017 | - - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Mar 31, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at