rs768535148
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_StrongBP6_Moderate
The NM_001267550.2(TTN):āc.69194T>Cā(p.Leu23065Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 1,613,014 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. L23065L) 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 -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.69194T>C | p.Leu23065Ser | missense_variant | 324/363 | ENST00000589042.5 | |
TTN-AS1 | NR_038272.1 | n.2044-5431A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.69194T>C | p.Leu23065Ser | missense_variant | 324/363 | 5 | NM_001267550.2 | P1 | |
ENST00000604215.1 | n.39A>G | non_coding_transcript_exon_variant | 1/1 | ||||||
TTN-AS1 | ENST00000659121.1 | n.417-20455A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000461 AC: 7AN: 151940Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000927 AC: 23AN: 248064Hom.: 0 AF XY: 0.0000966 AC XY: 13AN XY: 134562
GnomAD4 exome AF: 0.0000534 AC: 78AN: 1461074Hom.: 1 Cov.: 35 AF XY: 0.0000454 AC XY: 33AN XY: 726834
GnomAD4 genome ? AF: 0.0000461 AC: 7AN: 151940Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74174
ClinVar
Submissions by phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 17, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at