rs2857439
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001286633.2(TRIM40):c.345+1138G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.187 in 151,872 control chromosomes in the GnomAD database, including 3,083 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.19 ( 3083 hom., cov: 32)
Consequence
TRIM40
NM_001286633.2 intron
NM_001286633.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0820
Genes affected
TRIM40 (HGNC:18736): (tripartite motif containing 40) This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.95).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.233 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM40 | NM_001286633.2 | c.345+1138G>A | intron_variant | ENST00000396581.6 | |||
TRIM40 | NM_138700.4 | c.345+1138G>A | intron_variant | ||||
TRIM40 | XM_011514306.2 | c.345+1138G>A | intron_variant | ||||
TRIM40 | XM_011514309.2 | c.345+1138G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM40 | ENST00000396581.6 | c.345+1138G>A | intron_variant | 1 | NM_001286633.2 | P1 | |||
TRIM40 | ENST00000307859.4 | c.345+1138G>A | intron_variant | 1 | |||||
TRIM40 | ENST00000376724.6 | c.345+1138G>A | intron_variant | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.187 AC: 28423AN: 151756Hom.: 3079 Cov.: 32
GnomAD3 genomes
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.187 AC: 28449AN: 151872Hom.: 3083 Cov.: 32 AF XY: 0.188 AC XY: 13947AN XY: 74188
GnomAD4 genome
?
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13947
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468
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3476
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at