22-37771749-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001039141.3(TRIOBP):c.6936+13G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000101 in 1,613,738 control chromosomes in the GnomAD database, including 3 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 -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000644935.1 | c.6936+13G>T | intron_variant | Intron 22 of 23 | NM_001039141.3 | ENSP00000496394.1 | ||||
TRIOBP | ENST00000403663.6 | c.1797+13G>T | intron_variant | Intron 12 of 13 | 1 | ENSP00000386026.2 | ||||
TRIOBP | ENST00000344404.10 | n.*6419+13G>T | intron_variant | Intron 20 of 21 | 2 | ENSP00000340312.6 |
Frequencies
GnomAD3 genomes AF: 0.000414 AC: 63AN: 152162Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000277 AC: 69AN: 249312Hom.: 1 AF XY: 0.000177 AC XY: 24AN XY: 135316
GnomAD4 exome AF: 0.0000684 AC: 100AN: 1461458Hom.: 1 Cov.: 31 AF XY: 0.0000413 AC XY: 30AN XY: 727034
GnomAD4 genome AF: 0.000414 AC: 63AN: 152280Hom.: 2 Cov.: 32 AF XY: 0.000524 AC XY: 39AN XY: 74458
ClinVar
Submissions by phenotype
not specified Benign:1
c.6936+13G>T in intron 22 of TRIOBP: This variant is not expected to have clinic al significance because it does not alter an amino acid residue and is not locat ed within the splice consensus sequence. It has been identified in 0.2% (69/3358 0) of Latino chromosomes, including 1 homozygote, by the Genome Aggregation Data base (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs727503529). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at