rs778829839
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_ModerateBS2
The NM_001267550.2(TTN):c.37019C>T(p.Pro12340Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000868 in 1,359,128 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/12 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.37019C>T | p.Pro12340Leu | missense_variant | 177/363 | ENST00000589042.5 | |
LOC124906100 | XR_007087318.1 | n.2185+17857G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.37019C>T | p.Pro12340Leu | missense_variant | 177/363 | 5 | NM_001267550.2 | P1 | |
TTN-AS1 | ENST00000659121.1 | n.502+64677G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000110 AC: 14AN: 127612Hom.: 1 Cov.: 16
GnomAD3 exomes AF: 0.0000897 AC: 18AN: 200574Hom.: 3 AF XY: 0.000135 AC XY: 15AN XY: 110790
GnomAD4 exome AF: 0.0000868 AC: 118AN: 1359128Hom.: 20 Cov.: 31 AF XY: 0.0000874 AC XY: 59AN XY: 674978
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.000110 AC: 14AN: 127612Hom.: 1 Cov.: 16 AF XY: 0.000163 AC XY: 10AN XY: 61168
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 | Sep 15, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at