22-37701352-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001039141.3(TRIOBP):c.-14C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.225 in 1,601,948 control chromosomes in the GnomAD database, including 42,494 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001039141.3 5_prime_UTR
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 | c.-14C>G | 5_prime_UTR_variant | Exon 3 of 24 | NM_001039141.3 | ENSP00000496394.1 | ||||
ENSG00000100101 | ENST00000455236.4 | n.*323C>G | non_coding_transcript_exon_variant | Exon 9 of 13 | 5 | ENSP00000477208.1 | ||||
ENSG00000100101 | ENST00000455236.4 | n.*323C>G | 3_prime_UTR_variant | Exon 9 of 13 | 5 | ENSP00000477208.1 |
Frequencies
GnomAD3 genomes AF: 0.188 AC: 28536AN: 151988Hom.: 3221 Cov.: 32
GnomAD3 exomes AF: 0.232 AC: 55612AN: 240224Hom.: 6802 AF XY: 0.239 AC XY: 31071AN XY: 129782
GnomAD4 exome AF: 0.229 AC: 331487AN: 1449842Hom.: 39275 Cov.: 29 AF XY: 0.232 AC XY: 167148AN XY: 720930
GnomAD4 genome AF: 0.188 AC: 28542AN: 152106Hom.: 3219 Cov.: 32 AF XY: 0.191 AC XY: 14230AN XY: 74330
ClinVar
Submissions by phenotype
not specified Benign:3
-14C>G in Exon 03 of TRIOBP: This variant is not expected to have clinical signi ficance because it has been identified in 23.2% (1567/6740) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washi -
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Autosomal recessive nonsyndromic hearing loss 28 Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at