22-37771660-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001039141.3(TRIOBP):c.6860G>A(p.Arg2287His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000052 in 1,613,880 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R2287R) has been classified as Likely benign.
Frequency
Consequence
NM_001039141.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.6860G>A | p.Arg2287His | missense_variant | 22/24 | ENST00000644935.1 | |
TRIOBP | NM_007032.5 | c.1721G>A | p.Arg574His | missense_variant | 12/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000644935.1 | c.6860G>A | p.Arg2287His | missense_variant | 22/24 | NM_001039141.3 | A2 | ||
TRIOBP | ENST00000403663.6 | c.1721G>A | p.Arg574His | missense_variant | 12/14 | 1 | P2 | ||
TRIOBP | ENST00000344404.10 | c.*6343G>A | 3_prime_UTR_variant, NMD_transcript_variant | 20/22 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152096Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000601 AC: 15AN: 249556Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135400
GnomAD4 exome AF: 0.0000527 AC: 77AN: 1461784Hom.: 0 Cov.: 31 AF XY: 0.0000536 AC XY: 39AN XY: 727186
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152096Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74300
ClinVar
Submissions by phenotype
Autosomal recessive nonsyndromic hearing loss 28 Uncertain:1
Uncertain significance, criteria provided, single submitter | reference population | Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | Mar 18, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at