NM_001271938.2:c.919G>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001271938.2(MEGF8):c.919G>C(p.Val307Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 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. V307M) 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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MEGF8 | ENST00000251268.11 | c.919G>C | p.Val307Leu | missense_variant | Exon 6 of 42 | 5 | NM_001271938.2 | ENSP00000251268.5 | ||
MEGF8 | ENST00000334370.8 | c.919G>C | p.Val307Leu | missense_variant | Exon 6 of 41 | 1 | ENSP00000334219.4 | |||
MEGF8 | ENST00000378073 | c.-6167G>C | 5_prime_UTR_premature_start_codon_gain_variant | Exon 6 of 41 | 5 | ENSP00000367313.4 | ||||
MEGF8 | ENST00000378073 | c.-6167G>C | 5_prime_UTR_variant | Exon 6 of 41 | 5 | ENSP00000367313.4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at