rs148631577
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP2BP4_StrongBP6
The NM_001267550.2(TTN):āc.2599A>Gā(p.Ser867Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000632 in 1,614,062 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 Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S867R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.2599A>G | p.Ser867Gly | missense_variant | 16/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.2599A>G | p.Ser867Gly | missense_variant | 16/46 | ENST00000360870.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.2599A>G | p.Ser867Gly | missense_variant | 16/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.2599A>G | p.Ser867Gly | missense_variant | 16/46 | 5 | NM_133379.5 |
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251190Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135748
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461834Hom.: 0 Cov.: 31 AF XY: 0.0000371 AC XY: 27AN XY: 727218
GnomAD4 genome AF: 0.000342 AC: 52AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74380
ClinVar
Submissions by phenotype
not provided Uncertain:2Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 07, 2020 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jun 27, 2017 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Oct 29, 2019 | - - |
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 22, 2023 | - - |
Cardiovascular phenotype Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | May 29, 2020 | In silico models in agreement (benign);Subpopulation frequency in support of benign classification - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at