rs758561889
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The NM_022566.3(TLNRD1):āc.845A>Gā(p.Lys282Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000213 in 1,408,338 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_022566.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TLNRD1 | NM_022566.3 | c.845A>G | p.Lys282Arg | missense_variant | 1/1 | ENST00000267984.4 | NP_072088.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TLNRD1 | ENST00000267984.4 | c.845A>G | p.Lys282Arg | missense_variant | 1/1 | NM_022566.3 | ENSP00000267984 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000621 AC: 1AN: 161096Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 87816
GnomAD4 exome AF: 0.00000213 AC: 3AN: 1408338Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 696194
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Long QT syndrome Benign:1
Likely benign, no assertion criteria provided | research | Medical Research Institute, Tokyo Medical and Dental University | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at