chr16-1968578-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_174903.6(RNF151):c.391C>T(p.Arg131Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000544 in 1,600,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_174903.6 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 |
---|---|---|---|---|---|---|---|---|
RNF151 | NM_174903.6 | c.391C>T | p.Arg131Trp | missense_variant | Exon 4 of 4 | ENST00000569714.6 | NP_777563.2 | |
RNF151 | XM_005255129.5 | c.418C>T | p.Arg140Trp | missense_variant | Exon 4 of 4 | XP_005255186.1 | ||
RNF151 | NM_001348711.2 | c.*151C>T | 3_prime_UTR_variant | Exon 4 of 4 | NP_001335640.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF151 | ENST00000569714.6 | c.391C>T | p.Arg131Trp | missense_variant | Exon 4 of 4 | 1 | NM_174903.6 | ENSP00000456566.1 | ||
RNF151 | ENST00000321392.4 | c.388C>T | p.Arg130Trp | missense_variant | Exon 3 of 3 | 1 | ENSP00000325794.3 | |||
RNF151 | ENST00000569210.6 | c.*151C>T | 3_prime_UTR_variant | Exon 4 of 4 | 2 | ENSP00000454886.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000367 AC: 8AN: 218164Hom.: 0 AF XY: 0.0000166 AC XY: 2AN XY: 120444
GnomAD4 exome AF: 0.0000552 AC: 80AN: 1448398Hom.: 0 Cov.: 32 AF XY: 0.0000556 AC XY: 40AN XY: 719490
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.391C>T (p.R131W) alteration is located in exon 4 (coding exon 4) of the RNF151 gene. This alteration results from a C to T substitution at nucleotide position 391, causing the arginine (R) at amino acid position 131 to be replaced by a tryptophan (W). 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