chr9-136909938-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_021138.4(TRAF2):c.547C>T(p.Pro183Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000929 in 1,614,066 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021138.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRAF2 | NM_021138.4 | c.547C>T | p.Pro183Ser | missense_variant | Exon 6 of 11 | ENST00000247668.7 | NP_066961.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249752Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135200
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461852Hom.: 1 Cov.: 35 AF XY: 0.00000963 AC XY: 7AN XY: 727222
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.547C>T (p.P183S) alteration is located in exon 6 (coding exon 5) of the TRAF2 gene. This alteration results from a C to T substitution at nucleotide position 547, causing the proline (P) at amino acid position 183 to be replaced by a serine (S). 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