chr2-178657540-G-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_001267550.2(TTN):c.37996C>A(p.Pro12666Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000012 in 1,580,410 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/12 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P12666S) has been classified as Likely benign.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.37996C>A | p.Pro12666Thr | missense_variant | 189/363 | ENST00000589042.5 | |
LOC124906100 | XR_007087318.1 | n.2185+13039G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.37996C>A | p.Pro12666Thr | missense_variant | 189/363 | 5 | NM_001267550.2 | P1 | |
TTN-AS1 | ENST00000659121.1 | n.502+59859G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000139 AC: 2AN: 143668Hom.: 0 Cov.: 18
GnomAD3 exomes AF: 0.00000839 AC: 2AN: 238442Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 130124
GnomAD4 exome AF: 0.0000118 AC: 17AN: 1436742Hom.: 2 Cov.: 31 AF XY: 0.00000700 AC XY: 5AN XY: 714140
GnomAD4 genome ? AF: 0.0000139 AC: 2AN: 143668Hom.: 0 Cov.: 18 AF XY: 0.00 AC XY: 0AN XY: 69540
ClinVar
Submissions by phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J;C1858763:Dilated cardiomyopathy 1G Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Oct 23, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at