rs532046874
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002677.5(PMP2):c.388G>C(p.Glu130Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E130K) has been classified as Uncertain significance.
Frequency
Consequence
NM_002677.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PMP2 | ENST00000256103.3 | c.388G>C | p.Glu130Gln | missense_variant | Exon 4 of 4 | 1 | NM_002677.5 | ENSP00000256103.2 | ||
PMP2 | ENST00000519260 | c.*32G>C | 3_prime_UTR_variant | Exon 3 of 3 | 1 | ENSP00000429917.1 | ||||
ENSG00000253859 | ENST00000524085.2 | n.298+3316C>G | intron_variant | Intron 2 of 3 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.