8-27287819-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_171982.5(TRIM35):c.1213G>A(p.Val405Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000769 in 1,611,668 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM35 | NM_171982.5 | c.1213G>A | p.Val405Met | missense_variant | Exon 6 of 6 | ENST00000305364.9 | NP_741983.2 | |
TRIM35 | XM_047421602.1 | c.763G>A | p.Val255Met | missense_variant | Exon 6 of 6 | XP_047277558.1 | ||
TRIM35 | NM_001362813.2 | c.*293G>A | 3_prime_UTR_variant | Exon 5 of 5 | NP_001349742.1 | |||
TRIM35 | NM_001304495.2 | c.*293G>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.1213G>A | p.Val405Met | missense_variant | Exon 6 of 6 | 1 | NM_171982.5 | ENSP00000301924.4 | ||
TRIM35 | ENST00000521253 | c.*293G>A | 3_prime_UTR_variant | Exon 4 of 4 | 1 | ENSP00000428770.1 | ||||
TRIM35 | ENST00000521283.1 | c.288+217G>A | intron_variant | Intron 4 of 4 | 2 | ENSP00000429356.1 |
Frequencies
GnomAD3 genomes AF: 0.000296 AC: 45AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000128 AC: 31AN: 242260Hom.: 0 AF XY: 0.000114 AC XY: 15AN XY: 131812
GnomAD4 exome AF: 0.0000541 AC: 79AN: 1459332Hom.: 1 Cov.: 31 AF XY: 0.0000551 AC XY: 40AN XY: 725912
GnomAD4 genome AF: 0.000295 AC: 45AN: 152336Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1213G>A (p.V405M) 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 1213, causing the valine (V) at amino acid position 405 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