rs774937703
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 1P and 3B. PP2BP4_ModerateBP6
The NM_001267550.2(TTN):āc.1640A>Gā(p.Gln547Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,612,698 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.1640A>G | p.Gln547Arg | missense_variant | 10/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.1640A>G | p.Gln547Arg | missense_variant | 10/46 | ENST00000360870.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.1640A>G | p.Gln547Arg | missense_variant | 10/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.1640A>G | p.Gln547Arg | missense_variant | 10/46 | 5 | NM_133379.5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152248Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000560 AC: 14AN: 249912Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135104
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1460332Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 726458
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152366Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74520
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Sep 20, 2021 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 11, 2019 | This variant is associated with the following publications: (PMID: 31983221) - |
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | May 04, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at