15-51058286-G-C
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001311175.2(TNFAIP8L3):c.210C>G(p.Asn70Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000329 in 152,114 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001311175.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNFAIP8L3 | NM_001311175.2 | c.210C>G | p.Asn70Lys | missense_variant | Exon 2 of 2 | ENST00000637513.2 | NP_001298104.1 | |
TNFAIP8L3 | NM_207381.4 | c.474C>G | p.Asn158Lys | missense_variant | Exon 3 of 3 | NP_997264.2 | ||
MIR4713HG | NR_146310.1 | n.194+20605G>C | intron_variant | Intron 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNFAIP8L3 | ENST00000637513.2 | c.210C>G | p.Asn70Lys | missense_variant | Exon 2 of 2 | 1 | NM_001311175.2 | ENSP00000489743.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152114Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74306 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.474C>G (p.N158K) alteration is located in exon 3 (coding exon 3) of the TNFAIP8L3 gene. This alteration results from a C to G substitution at nucleotide position 474, causing the asparagine (N) at amino acid position 158 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at