rs755400663
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001271938.2(MEGF8):c.8271C>G(p.Pro2757Pro) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P2757P) has been classified as Likely benign.
Frequency
Consequence
NM_001271938.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MEGF8 | NM_001271938.2 | c.8271C>G | p.Pro2757Pro | synonymous_variant | 42/42 | ENST00000251268.11 | NP_001258867.1 | |
MEGF8 | NM_001410.3 | c.8070C>G | p.Pro2690Pro | synonymous_variant | 41/41 | NP_001401.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MEGF8 | ENST00000251268.11 | c.8271C>G | p.Pro2757Pro | synonymous_variant | 42/42 | 5 | NM_001271938.2 | ENSP00000251268.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at