rs34066624
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001039141.3(TRIOBP):c.4031G>A(p.Arg1344Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00365 in 1,551,186 control chromosomes in the GnomAD database, including 17 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 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.4031G>A | p.Arg1344Gln | missense_variant | Exon 8 of 24 | NM_001039141.3 | ENSP00000496394.1 | |||
TRIOBP | ENST00000344404.10 | n.*3514G>A | non_coding_transcript_exon_variant | Exon 6 of 22 | 2 | ENSP00000340312.6 | ||||
TRIOBP | ENST00000344404.10 | n.*3514G>A | 3_prime_UTR_variant | Exon 6 of 22 | 2 | ENSP00000340312.6 |
Frequencies
GnomAD3 genomes AF: 0.00229 AC: 348AN: 152216Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00251 AC: 389AN: 155072Hom.: 2 AF XY: 0.00241 AC XY: 199AN XY: 82546
GnomAD4 exome AF: 0.00380 AC: 5316AN: 1398852Hom.: 16 Cov.: 34 AF XY: 0.00368 AC XY: 2541AN XY: 689990
GnomAD4 genome AF: 0.00228 AC: 348AN: 152334Hom.: 1 Cov.: 32 AF XY: 0.00234 AC XY: 174AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:6
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TRIOBP: BP4, BS2 -
Autosomal recessive nonsyndromic hearing loss 28 Benign:2
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not specified Benign:1
Arg1344Gln in Exon 08 of TRIOBP: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (30/6466) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs34066624). -
TRIOBP-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Deafness Other:1
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at