NM_001039141.3:c.7032G>A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001039141.3(TRIOBP):c.7032G>A(p.Glu2344Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00109 in 1,614,100 control chromosomes in the GnomAD database, including 16 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001039141.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000644935.1 | c.7032G>A | p.Glu2344Glu | synonymous_variant | Exon 23 of 24 | NM_001039141.3 | ENSP00000496394.1 | |||
TRIOBP | ENST00000403663.6 | c.1893G>A | p.Glu631Glu | synonymous_variant | Exon 13 of 14 | 1 | ENSP00000386026.2 | |||
TRIOBP | ENST00000344404.10 | n.*6515G>A | non_coding_transcript_exon_variant | Exon 21 of 22 | 2 | ENSP00000340312.6 | ||||
TRIOBP | ENST00000344404.10 | n.*6515G>A | 3_prime_UTR_variant | Exon 21 of 22 | 2 | ENSP00000340312.6 |
Frequencies
GnomAD3 genomes AF: 0.00575 AC: 875AN: 152182Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00133 AC: 331AN: 249442Hom.: 1 AF XY: 0.00101 AC XY: 137AN XY: 135338
GnomAD4 exome AF: 0.000606 AC: 886AN: 1461800Hom.: 10 Cov.: 32 AF XY: 0.000540 AC XY: 393AN XY: 727202
GnomAD4 genome AF: 0.00577 AC: 879AN: 152300Hom.: 6 Cov.: 32 AF XY: 0.00568 AC XY: 423AN XY: 74484
ClinVar
Submissions by phenotype
not specified Benign:2
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Glu2344Glu in Exon 23 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 1.8% (67/3684) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs61737839). -
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at