2-238320731-C-G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 2P and 11B. PM2BP4_StrongBP6_ModerateBP7BS1
The NM_015650.4(TRAF3IP1):āc.69C>Gā(p.Thr23=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000096 in 1,447,916 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 Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. T23T) has been classified as Benign.
Frequency
Consequence
NM_015650.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRAF3IP1 | NM_015650.4 | c.69C>G | p.Thr23= | synonymous_variant | 1/17 | ENST00000373327.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRAF3IP1 | ENST00000373327.5 | c.69C>G | p.Thr23= | synonymous_variant | 1/17 | 1 | NM_015650.4 | ||
TRAF3IP1 | ENST00000391993.7 | c.69C>G | p.Thr23= | synonymous_variant | 1/15 | 1 | P1 | ||
TRAF3IP1 | ENST00000409739.2 | c.69C>G | p.Thr23= | synonymous_variant, NMD_transcript_variant | 1/5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000397 AC: 6AN: 151114Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.000103 AC: 133AN: 1296694Hom.: 1 Cov.: 56 AF XY: 0.000109 AC XY: 70AN XY: 639794
GnomAD4 genome AF: 0.0000397 AC: 6AN: 151222Hom.: 0 Cov.: 33 AF XY: 0.0000541 AC XY: 4AN XY: 73898
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 13, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at