rs897453
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_148172.3(PEMT):c.283G>T(p.Val95Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,461,438 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_148172.3 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PEMT | NM_148172.3 | c.283G>T | p.Val95Phe | missense_variant | 3/7 | ENST00000255389.10 | NP_680477.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PEMT | ENST00000255389.10 | c.283G>T | p.Val95Phe | missense_variant | 3/7 | 1 | NM_148172.3 | ENSP00000255389 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250372Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135494
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461438Hom.: 0 Cov.: 36 AF XY: 0.00000413 AC XY: 3AN XY: 727032
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at