rs541040798
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001267550.2(TTN):c.94348C>T(p.Arg31450Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00016 in 1,613,734 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.94348C>T | p.Arg31450Cys | missense_variant | Exon 340 of 363 | ENST00000589042.5 | NP_001254479.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.94348C>T | p.Arg31450Cys | missense_variant | Exon 340 of 363 | 5 | NM_001267550.2 | ENSP00000467141.1 |
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 152046Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000357 AC: 89AN: 248964Hom.: 3 AF XY: 0.000533 AC XY: 72AN XY: 135054
GnomAD4 exome AF: 0.000167 AC: 244AN: 1461570Hom.: 4 Cov.: 34 AF XY: 0.000253 AC XY: 184AN XY: 727072
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74376
ClinVar
Submissions by phenotype
not provided Uncertain:1
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not specified Benign:1
The p.Arg28882Cys variant in TTN is classified as benign because it has been identified in 0.3% (82/30602) of South Asian chromosomes and 3 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. -
TTN-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at