6-30342137-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001369521.2(TRIM39):c.1345C>T(p.His449Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001369521.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM39 | NM_001369521.2 | c.1345C>T | p.His449Tyr | missense_variant | Exon 8 of 8 | ENST00000396551.9 | NP_001356450.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM39 | ENST00000396551.9 | c.1345C>T | p.His449Tyr | missense_variant | Exon 8 of 8 | 5 | NM_001369521.2 | ENSP00000379800.3 | ||
TRIM39-RPP21 | ENST00000623385.3 | c.1104+241C>T | intron_variant | Intron 7 of 10 | 5 | ENSP00000485378.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1435C>T (p.H479Y) alteration is located in exon 9 (coding exon 7) of the TRIM39 gene. This alteration results from a C to T substitution at nucleotide position 1435, causing the histidine (H) at amino acid position 479 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.