rs141383715
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001271938.2(MEGF8):āc.3010C>Gā(p.Arg1004Gly) 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. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1004W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001271938.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEGF8 | NM_001271938.2 | c.3010C>G | p.Arg1004Gly | missense_variant | 18/42 | ENST00000251268.11 | |
MEGF8 | NM_001410.3 | c.2809C>G | p.Arg937Gly | missense_variant | 17/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEGF8 | ENST00000251268.11 | c.3010C>G | p.Arg1004Gly | missense_variant | 18/42 | 5 | NM_001271938.2 | A2 | |
MEGF8 | ENST00000334370.8 | c.2809C>G | p.Arg937Gly | missense_variant | 17/41 | 1 | P2 | ||
MEGF8 | ENST00000378073.5 | c.-4076C>G | 5_prime_UTR_variant | 18/41 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1437994Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 713274
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at