1-107056842-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018137.3(PRMT6):c.127C>T(p.Arg43Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,670 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018137.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRMT6 | ENST00000370078.2 | c.127C>T | p.Arg43Trp | missense_variant | Exon 1 of 1 | 6 | NM_018137.3 | ENSP00000359095.1 | ||
PRMT6 | ENST00000650338.1 | n.-60C>T | upstream_gene_variant | ENSP00000497826.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241482Hom.: 0 AF XY: 0.00000760 AC XY: 1AN XY: 131542
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458670Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725396
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.127C>T (p.R43W) alteration is located in exon 1 (coding exon 1) of the PRMT6 gene. This alteration results from a C to T substitution at nucleotide position 127, causing the arginine (R) at amino acid position 43 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