rs377207838
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP2
The NM_001267550.2(TTN):c.9166C>T(p.Arg3056Cys) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,613,766 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R3056H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001267550.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.9166C>T | p.Arg3056Cys | missense_variant, splice_region_variant | 39/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.9166C>T | p.Arg3056Cys | missense_variant, splice_region_variant | 39/46 | ENST00000360870.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.9166C>T | p.Arg3056Cys | missense_variant, splice_region_variant | 39/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.9166C>T | p.Arg3056Cys | missense_variant, splice_region_variant | 39/46 | 5 | NM_133379.5 | ||
TTN-AS1 | ENST00000659121.1 | n.1592+3785G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000789 AC: 12AN: 152072Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250476Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135374
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461694Hom.: 0 Cov.: 36 AF XY: 0.0000124 AC XY: 9AN XY: 727170
GnomAD4 genome ? AF: 0.0000789 AC: 12AN: 152072Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74280
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 | Nov 02, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at