1-209777415-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_025228.4(TRAF3IP3):c.1117C>G(p.Gln373Glu) variant causes a missense change. The variant allele was found at a frequency of 0.795 in 1,613,380 control chromosomes in the GnomAD database, including 510,605 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_025228.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRAF3IP3 | NM_025228.4 | c.1117C>G | p.Gln373Glu | missense_variant | 12/17 | ENST00000367025.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRAF3IP3 | ENST00000367025.8 | c.1117C>G | p.Gln373Glu | missense_variant | 12/17 | 1 | NM_025228.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.814 AC: 123661AN: 151936Hom.: 50478 Cov.: 31
GnomAD3 exomes AF: 0.791 AC: 198762AN: 251162Hom.: 78888 AF XY: 0.789 AC XY: 107058AN XY: 135752
GnomAD4 exome AF: 0.793 AC: 1159180AN: 1461326Hom.: 460092 Cov.: 48 AF XY: 0.793 AC XY: 576194AN XY: 726938
GnomAD4 genome ? AF: 0.814 AC: 123753AN: 152054Hom.: 50513 Cov.: 31 AF XY: 0.811 AC XY: 60250AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at