22-37765827-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM2BP4_StrongBP6_Very_StrongBS1
The NM_001039141.3(TRIOBP):c.6472+10C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000529 in 1,509,196 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 (★★).
Frequency
Consequence
NM_001039141.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000644935.1 | c.6472+10C>T | intron_variant | Intron 18 of 23 | NM_001039141.3 | ENSP00000496394.1 | ||||
TRIOBP | ENST00000403663.6 | c.1333+10C>T | intron_variant | Intron 8 of 13 | 1 | ENSP00000386026.2 | ||||
TRIOBP | ENST00000344404.10 | n.*5955+10C>T | intron_variant | Intron 16 of 21 | 2 | ENSP00000340312.6 |
Frequencies
GnomAD3 genomes AF: 0.00526 AC: 398AN: 75718Hom.: 0 Cov.: 27
GnomAD3 exomes AF: 0.00111 AC: 116AN: 104946Hom.: 1 AF XY: 0.000852 AC XY: 50AN XY: 58706
GnomAD4 exome AF: 0.000279 AC: 400AN: 1433416Hom.: 1 Cov.: 31 AF XY: 0.000232 AC XY: 165AN XY: 711330
GnomAD4 genome AF: 0.00527 AC: 399AN: 75780Hom.: 0 Cov.: 27 AF XY: 0.00518 AC XY: 193AN XY: 37230
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
c.6472+10C>T in intron 18 of TRIOBP: This variant is not expected to have clinic al significance because it is not located within the conserved region of the spl ice consensus sequence and has been identified in 5.1% (40/774) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at