12-3540627-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019854.5(PRMT8):c.97C>T(p.Pro33Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000352 in 1,420,234 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P33R) has been classified as Uncertain significance.
Frequency
Consequence
NM_019854.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
PRMT8 | ENST00000382622.4 | c.97C>T | p.Pro33Ser | missense_variant | Exon 2 of 10 | 1 | NM_019854.5 | ENSP00000372067.3 | ||
PRMT8 | ENST00000452611.6 | c.70C>T | p.Pro24Ser | missense_variant | Exon 2 of 10 | 1 | ENSP00000414507.2 | |||
PRMT8 | ENST00000261252.4 | n.516C>T | non_coding_transcript_exon_variant | Exon 2 of 12 | 2 | |||||
PRMT8 | ENST00000543701.5 | n.464C>T | non_coding_transcript_exon_variant | Exon 2 of 9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000668 AC: 1AN: 149630Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.00000421 AC: 1AN: 237350Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 128824
GnomAD4 exome AF: 0.00000315 AC: 4AN: 1270604Hom.: 0 Cov.: 27 AF XY: 0.00000469 AC XY: 3AN XY: 639754
GnomAD4 genome AF: 0.00000668 AC: 1AN: 149630Hom.: 0 Cov.: 30 AF XY: 0.0000137 AC XY: 1AN XY: 72904
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.97C>T (p.P33S) alteration is located in exon 2 (coding exon 2) of the PRMT8 gene. This alteration results from a C to T substitution at nucleotide position 97, causing the proline (P) at amino acid position 33 to be replaced by a serine (S). 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