15-51057897-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001311175.2(TNFAIP8L3):c.599A>G(p.Asp200Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000405 in 1,581,738 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNFAIP8L3 | NM_001311175.2 | c.599A>G | p.Asp200Gly | missense_variant | Exon 2 of 2 | ENST00000637513.2 | NP_001298104.1 | |
TNFAIP8L3 | NM_207381.4 | c.863A>G | p.Asp288Gly | missense_variant | Exon 3 of 3 | NP_997264.2 | ||
MIR4713HG | NR_146310.1 | n.194+20216T>C | intron_variant | Intron 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNFAIP8L3 | ENST00000637513.2 | c.599A>G | p.Asp200Gly | missense_variant | Exon 2 of 2 | 1 | NM_001311175.2 | ENSP00000489743.1 |
Frequencies
GnomAD3 genomes AF: 0.000269 AC: 41AN: 152222Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000751 AC: 17AN: 226276 AF XY: 0.0000823 show subpopulations
GnomAD4 exome AF: 0.0000154 AC: 22AN: 1429398Hom.: 0 Cov.: 30 AF XY: 0.0000113 AC XY: 8AN XY: 707696 show subpopulations
GnomAD4 genome AF: 0.000276 AC: 42AN: 152340Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 17AN XY: 74490 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.863A>G (p.D288G) alteration is located in exon 3 (coding exon 3) of the TNFAIP8L3 gene. This alteration results from a A to G substitution at nucleotide position 863, causing the aspartic acid (D) at amino acid position 288 to be replaced by a glycine (G). 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