22-37751807-G-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_001039141.3(TRIOBP):c.5358G>T(p.Ser1786Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00025 in 1,613,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001039141.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.5358G>T | p.Ser1786Ser | synonymous_variant | Exon 12 of 24 | ENST00000644935.1 | NP_001034230.1 | |
TRIOBP | NM_007032.5 | c.219G>T | p.Ser73Ser | synonymous_variant | Exon 2 of 14 | NP_008963.3 | ||
TRIOBP | NM_138632.2 | c.219G>T | p.Ser73Ser | synonymous_variant | Exon 2 of 8 | NP_619538.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 251104Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135790
GnomAD4 exome AF: 0.000259 AC: 379AN: 1461834Hom.: 0 Cov.: 31 AF XY: 0.000248 AC XY: 180AN XY: 727224
GnomAD4 genome AF: 0.000164 AC: 25AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74320
ClinVar
Submissions by phenotype
not specified Benign:1
Ser1786Ser in Exon 12 of TRIOBP: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs139435527). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at