rs183455182
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001039141.3(TRIOBP):c.4484A>T(p.Glu1495Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000452 in 1,612,506 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/19 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.4484A>T | p.Glu1495Val | missense_variant | 9/24 | ENST00000644935.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000644935.1 | c.4484A>T | p.Glu1495Val | missense_variant | 9/24 | NM_001039141.3 | A2 | ||
TRIOBP | ENST00000344404.10 | c.*3967A>T | 3_prime_UTR_variant, NMD_transcript_variant | 7/22 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000428 AC: 65AN: 152030Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000898 AC: 219AN: 243806Hom.: 1 AF XY: 0.000906 AC XY: 121AN XY: 133622
GnomAD4 exome AF: 0.000455 AC: 664AN: 1460358Hom.: 8 Cov.: 36 AF XY: 0.000486 AC XY: 353AN XY: 726450
GnomAD4 genome ? AF: 0.000427 AC: 65AN: 152148Hom.: 1 Cov.: 33 AF XY: 0.000538 AC XY: 40AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 21, 2023 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 04, 2018 | 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. - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 21, 2016 | p.Glu1495Val in exon 9 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 1% (84/8212) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs183455182). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at