rs727504520
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_001267550.2(TTN):āc.68097G>Cā(p.Gln22699His) variant causes a missense change. The variant allele was found at a frequency of 0.000142 in 1,613,112 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 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 -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.68097G>C | p.Gln22699His | missense_variant | 320/363 | ENST00000589042.5 | |
TTN-AS1 | NR_038272.1 | n.2044-3639C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.68097G>C | p.Gln22699His | missense_variant | 320/363 | 5 | NM_001267550.2 | P1 | |
ENST00000603521.1 | n.144C>G | non_coding_transcript_exon_variant | 1/1 | ||||||
TTN-AS1 | ENST00000659121.1 | n.417-18663C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151982Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000523 AC: 13AN: 248510Hom.: 0 AF XY: 0.0000668 AC XY: 9AN XY: 134806
GnomAD4 exome AF: 0.000149 AC: 217AN: 1461130Hom.: 0 Cov.: 33 AF XY: 0.000131 AC XY: 95AN XY: 726858
GnomAD4 genome AF: 0.0000790 AC: 12AN: 151982Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74192
ClinVar
Submissions by phenotype
not provided Uncertain:2Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Aug 07, 2019 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 06, 2019 | This variant is associated with the following publications: (PMID: 31983221, 26573135) - |
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Mar 26, 2018 | - - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Apr 12, 2013 | The Gln20131His variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, PolyPhen2, and SIFT) are uninformative. Additio nal information is needed to fully assess the clinical significance of this vari ant. - |
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Dec 18, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at