rs181741158
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_ModerateBP6_ModerateBP7BS1
The NM_138632.2(TRIOBP):c.1224G>A(p.Arg408Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00018 in 1,486,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_138632.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.6324+191G>A | intron_variant | Intron 17 of 23 | ENST00000644935.1 | NP_001034230.1 | ||
TRIOBP | NM_138632.2 | c.1224G>A | p.Arg408Arg | synonymous_variant | Exon 8 of 8 | NP_619538.2 | ||
TRIOBP | NM_007032.5 | c.1185+191G>A | intron_variant | Intron 7 of 13 | NP_008963.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000407319.7 | c.1224G>A | p.Arg408Arg | synonymous_variant | Exon 8 of 8 | 1 | ENSP00000383913.2 | |||
TRIOBP | ENST00000644935.1 | c.6324+191G>A | intron_variant | Intron 17 of 23 | NM_001039141.3 | ENSP00000496394.1 | ||||
TRIOBP | ENST00000403663.6 | c.1185+191G>A | intron_variant | Intron 7 of 13 | 1 | ENSP00000386026.2 | ||||
TRIOBP | ENST00000344404.10 | n.*5807+191G>A | intron_variant | Intron 15 of 21 | 2 | ENSP00000340312.6 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152154Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000310 AC: 77AN: 248760Hom.: 0 AF XY: 0.000393 AC XY: 53AN XY: 134708
GnomAD4 exome AF: 0.000187 AC: 250AN: 1334600Hom.: 0 Cov.: 21 AF XY: 0.000249 AC XY: 167AN XY: 670968
GnomAD4 genome AF: 0.000112 AC: 17AN: 152272Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74478
ClinVar
Submissions by phenotype
not specified Benign:1
Arg408Arg in exon 8 of TRIOBP: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, it is not located wit hin the splice consensus sequence, and it has been identified in 1% (2/178) of J apanese chromosomes by the 1000 Genomes Project (dbSNP rs181741158). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at