19-42334083-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP6
The NM_001271938.2(MEGF8):c.428C>G(p.Pro143Arg) 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. Variant has been reported in Lovd as Likely benign (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P143L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001271938.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEGF8 | NM_001271938.2 | c.428C>G | p.Pro143Arg | missense_variant | 3/42 | ENST00000251268.11 | |
MEGF8 | NM_001410.3 | c.428C>G | p.Pro143Arg | missense_variant | 3/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEGF8 | ENST00000251268.11 | c.428C>G | p.Pro143Arg | missense_variant | 3/42 | 5 | NM_001271938.2 | A2 | |
MEGF8 | ENST00000334370.8 | c.428C>G | p.Pro143Arg | missense_variant | 3/41 | 1 | P2 | ||
MEGF8 | ENST00000378073.5 | c.-6658C>G | 5_prime_UTR_variant | 3/41 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at