chr10-112286371-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6BP7
The NM_058222.3(TECTB):c.463C>T(p.Leu155Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_058222.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TECTB | ENST00000646139.2 | c.463C>T | p.Leu155Leu | synonymous_variant | Exon 5 of 11 | NM_058222.3 | ENSP00000494896.1 | |||
TECTB | ENST00000369422.4 | c.463C>T | p.Leu155Leu | synonymous_variant | Exon 4 of 10 | 1 | ENSP00000358430.3 | |||
TECTB | ENST00000643850.1 | c.493C>T | p.Leu165Leu | synonymous_variant | Exon 5 of 11 | ENSP00000495832.1 | ||||
TECTB | ENST00000645243.1 | c.463C>T | p.Leu155Leu | synonymous_variant | Exon 5 of 11 | ENSP00000495514.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
TECTB-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at