2-178777314-A-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP2BP4_Strong
The NM_001267550.2(TTN):āc.4649T>Cā(p.Val1550Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,613,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Synonymous variant affecting the same amino acid position (i.e. V1550V) has been classified as Likely benign.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.4649T>C | p.Val1550Ala | missense_variant | 27/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.4649T>C | p.Val1550Ala | missense_variant | 27/46 | ENST00000360870.10 | |
LOC101927055 | NR_120594.1 | n.389A>G | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.4649T>C | p.Val1550Ala | missense_variant | 27/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.4649T>C | p.Val1550Ala | missense_variant | 27/46 | 5 | NM_133379.5 | ||
TTN-AS1 | ENST00000659121.1 | n.4741A>G | non_coding_transcript_exon_variant | 12/13 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250178Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135206
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461490Hom.: 0 Cov.: 34 AF XY: 0.0000179 AC XY: 13AN XY: 727034
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74376
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 26, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at