chr9-97910041-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016481.5(TRMO):c.985G>A(p.Val329Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000932 in 1,610,010 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016481.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRMO | ENST00000375119.8 | c.985G>A | p.Val329Met | missense_variant | Exon 4 of 5 | 1 | NM_016481.5 | ENSP00000364260.3 | ||
TRMO | ENST00000375118.1 | c.547G>A | p.Val183Met | missense_variant | Exon 1 of 2 | 1 | ENSP00000364259.1 | |||
TRMO | ENST00000478126.5 | n.789G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
TRMO | ENST00000375117.8 | c.*605G>A | downstream_gene_variant | 3 | ENSP00000364258.4 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249832Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135080
GnomAD4 exome AF: 0.00000823 AC: 12AN: 1457796Hom.: 0 Cov.: 31 AF XY: 0.00000690 AC XY: 5AN XY: 724612
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.985G>A (p.V329M) alteration is located in exon 4 (coding exon 4) of the TRMO gene. This alteration results from a G to A substitution at nucleotide position 985, causing the valine (V) at amino acid position 329 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at