rs199640717
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001039141.3(TRIOBP):c.4333A>G(p.Arg1445Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00302 in 1,601,028 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001039141.3 missense
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.4333A>G | p.Arg1445Gly | missense_variant | Exon 9 of 24 | NM_001039141.3 | ENSP00000496394.1 | |||
TRIOBP | ENST00000344404.10 | n.*3816A>G | non_coding_transcript_exon_variant | Exon 7 of 22 | 2 | ENSP00000340312.6 | ||||
TRIOBP | ENST00000344404.10 | n.*3816A>G | 3_prime_UTR_variant | Exon 7 of 22 | 2 | ENSP00000340312.6 |
Frequencies
GnomAD3 genomes AF: 0.00215 AC: 327AN: 152088Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00175 AC: 382AN: 217794Hom.: 2 AF XY: 0.00177 AC XY: 213AN XY: 120034
GnomAD4 exome AF: 0.00311 AC: 4511AN: 1448822Hom.: 12 Cov.: 36 AF XY: 0.00306 AC XY: 2201AN XY: 719724
GnomAD4 genome AF: 0.00215 AC: 327AN: 152206Hom.: 1 Cov.: 33 AF XY: 0.00210 AC XY: 156AN XY: 74416
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
p.Arg1445Gly in exon 9 of TRIOBP: This variant is not expected to have clinical significance because it is has been identified in 0.4% (122/27370) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs199640717). -
TRIOBP-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at