rs1555896093
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001039141.3(TRIOBP):c.2064C>A(p.Ser688Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S688N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001039141.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.2064C>A | p.Ser688Arg | missense_variant | 7/24 | ENST00000644935.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000644935.1 | c.2064C>A | p.Ser688Arg | missense_variant | 7/24 | NM_001039141.3 | A2 | ||
TRIOBP | ENST00000492485.5 | n.1998C>A | non_coding_transcript_exon_variant | 5/5 | 1 | ||||
TRIOBP | ENST00000344404.10 | c.*1547C>A | 3_prime_UTR_variant, NMD_transcript_variant | 5/22 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 28
GnomAD4 exome Cov.: 153
GnomAD4 genome ? Cov.: 28
ClinVar
Submissions by phenotype
Autosomal recessive nonsyndromic hearing loss 28 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genomic Research Center, Shahid Beheshti University of Medical Sciences | Dec 18, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at