9-120909242-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_005658.5(TRAF1):c.1020C>G(p.Pro340=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P340P) has been classified as Benign.
Frequency
Consequence
NM_005658.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRAF1 | NM_005658.5 | c.1020C>G | p.Pro340= | synonymous_variant | 7/8 | ENST00000373887.8 | |
TRAF1 | NM_001190945.2 | c.1020C>G | p.Pro340= | synonymous_variant | 8/9 | ||
TRAF1 | NM_001190947.2 | c.654C>G | p.Pro218= | synonymous_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRAF1 | ENST00000373887.8 | c.1020C>G | p.Pro340= | synonymous_variant | 7/8 | 1 | NM_005658.5 | P1 | |
TRAF1 | ENST00000540010.1 | c.1020C>G | p.Pro340= | synonymous_variant | 8/9 | 1 | P1 | ||
TRAF1 | ENST00000546084.5 | c.654C>G | p.Pro218= | synonymous_variant | 5/6 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461672Hom.: 0 Cov.: 61 AF XY: 0.00000138 AC XY: 1AN XY: 727118
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at