22-37759426-G-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000407319.7(TRIOBP):c.1195G>T(p.Val399Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000849 in 1,177,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V399M) has been classified as Likely benign.
Frequency
Consequence
ENST00000407319.7 missense
Scores
Clinical Significance
Conservation
Publications
- autosomal recessive nonsyndromic hearing loss 28Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae), PanelApp Australia
- hearing loss, autosomal recessiveInheritance: AR Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.6324+162G>T | intron_variant | Intron 17 of 23 | ENST00000644935.1 | NP_001034230.1 | ||
TRIOBP | NM_138632.2 | c.1195G>T | p.Val399Leu | missense_variant | Exon 8 of 8 | NP_619538.2 | ||
TRIOBP | NM_007032.5 | c.1185+162G>T | 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.1195G>T | p.Val399Leu | missense_variant | Exon 8 of 8 | 1 | ENSP00000383913.2 | |||
TRIOBP | ENST00000644935.1 | c.6324+162G>T | intron_variant | Intron 17 of 23 | NM_001039141.3 | ENSP00000496394.1 | ||||
TRIOBP | ENST00000403663.6 | c.1185+162G>T | intron_variant | Intron 7 of 13 | 1 | ENSP00000386026.2 | ||||
TRIOBP | ENST00000344404.10 | n.*5807+162G>T | intron_variant | Intron 15 of 21 | 2 | ENSP00000340312.6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 8.49e-7 AC: 1AN: 1177518Hom.: 0 Cov.: 17 AF XY: 0.00 AC XY: 0AN XY: 599228 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at