18-32204205-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005925.3(MEP1B):c.392G>A(p.Arg131Lys) 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. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005925.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MEP1B | NM_005925.3 | c.392G>A | p.Arg131Lys | missense_variant | 7/15 | ENST00000269202.11 | NP_005916.2 | |
MEP1B | NM_001308171.2 | c.392G>A | p.Arg131Lys | missense_variant | 7/15 | NP_001295100.1 | ||
MEP1B | XM_011526013.3 | c.392G>A | p.Arg131Lys | missense_variant | 7/14 | XP_011524315.1 | ||
MEP1B | XM_011526014.3 | c.392G>A | p.Arg131Lys | missense_variant | 7/13 | XP_011524316.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MEP1B | ENST00000269202.11 | c.392G>A | p.Arg131Lys | missense_variant | 7/15 | 1 | NM_005925.3 | ENSP00000269202.6 | ||
MEP1B | ENST00000581447.1 | c.392G>A | p.Arg131Lys | missense_variant | 7/15 | 1 | ENSP00000463280.1 | |||
GAREM1 | ENST00000583696.1 | c.64-67745C>T | intron_variant | 3 | ENSP00000464185.1 | |||||
MEP1B | ENST00000581184.5 | n.437G>A | non_coding_transcript_exon_variant | 7/7 | 3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 24, 2022 | The c.392G>A (p.R131K) alteration is located in exon 7 (coding exon 7) of the MEP1B gene. This alteration results from a G to A substitution at nucleotide position 392, causing the arginine (R) at amino acid position 131 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.