2-178795248-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 1P and 3B. PP2BP4_ModerateBP6
The NM_001267550.2(TTN):c.919G>A(p.Val307Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000266 in 1,613,936 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 Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. V307V) 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 -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.919G>A | p.Val307Met | missense_variant | 7/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.919G>A | p.Val307Met | missense_variant | 7/46 | ENST00000360870.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.919G>A | p.Val307Met | missense_variant | 7/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.919G>A | p.Val307Met | missense_variant | 7/46 | 5 | NM_133379.5 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 151996Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 250840Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135572
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461824Hom.: 0 Cov.: 32 AF XY: 0.0000275 AC XY: 20AN XY: 727216
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152112Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74394
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 21, 2021 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Oct 04, 2023 | - - |
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, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at