rs780641230
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016027.3(LACTB2):c.340A>T(p.Ile114Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016027.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LACTB2 | NM_016027.3 | c.340A>T | p.Ile114Leu | missense_variant | Exon 3 of 7 | ENST00000276590.5 | NP_057111.1 | |
LACTB2-AS1 | NR_038881.1 | n.582-2316T>A | intron_variant | Intron 3 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LACTB2 | ENST00000276590.5 | c.340A>T | p.Ile114Leu | missense_variant | Exon 3 of 7 | 1 | NM_016027.3 | ENSP00000276590.4 | ||
LACTB2-AS1 | ENST00000499227.6 | n.582-2316T>A | intron_variant | Intron 3 of 3 | 1 | |||||
LACTB2 | ENST00000522447.5 | c.340A>T | p.Ile114Leu | missense_variant | Exon 3 of 8 | 2 | ENSP00000428801.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459082Hom.: 0 Cov.: 28 AF XY: 0.00000275 AC XY: 2AN XY: 726080
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at