8-27287854-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_171982.5(TRIM35):c.1178G>A(p.Arg393His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,460,692 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_171982.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM35 | NM_171982.5 | c.1178G>A | p.Arg393His | missense_variant | Exon 6 of 6 | ENST00000305364.9 | NP_741983.2 | |
TRIM35 | XM_047421602.1 | c.728G>A | p.Arg243His | missense_variant | Exon 6 of 6 | XP_047277558.1 | ||
TRIM35 | NM_001362813.2 | c.*258G>A | 3_prime_UTR_variant | Exon 5 of 5 | NP_001349742.1 | |||
TRIM35 | NM_001304495.2 | c.*258G>A | 3_prime_UTR_variant | Exon 4 of 4 | NP_001291424.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM35 | ENST00000305364.9 | c.1178G>A | p.Arg393His | missense_variant | Exon 6 of 6 | 1 | NM_171982.5 | ENSP00000301924.4 | ||
TRIM35 | ENST00000521253 | c.*258G>A | 3_prime_UTR_variant | Exon 4 of 4 | 1 | ENSP00000428770.1 | ||||
TRIM35 | ENST00000521283.1 | c.288+182G>A | intron_variant | Intron 4 of 4 | 2 | ENSP00000429356.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460692Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726682
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1178G>A (p.R393H) alteration is located in exon 6 (coding exon 6) of the TRIM35 gene. This alteration results from a G to A substitution at nucleotide position 1178, causing the arginine (R) at amino acid position 393 to be replaced by a histidine (H). 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