rs45508602
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_032571.5(ADGRE3):c.1154G>C(p.Arg385Pro) 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. 12/20 in silico tools predict 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. R385Q) has been classified as Likely benign.
Frequency
Consequence
NM_032571.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADGRE3 | NM_032571.5 | c.1154G>C | p.Arg385Pro | missense_variant | 10/16 | ENST00000253673.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRE3 | ENST00000253673.6 | c.1154G>C | p.Arg385Pro | missense_variant | 10/16 | 1 | NM_032571.5 | P1 | |
ADGRE3 | ENST00000344373.8 | c.998G>C | p.Arg333Pro | missense_variant | 9/15 | 1 | |||
ADGRE3 | ENST00000443157.6 | c.776G>C | p.Arg259Pro | missense_variant | 7/13 | 2 | |||
ADGRE3 | ENST00000599900.5 | c.509G>C | p.Arg170Pro | missense_variant | 9/15 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 75
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at