rs373417416
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001271938.2(MEGF8):c.6274-9C>A variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000307 in 1,595,390 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001271938.2 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEGF8 | NM_001271938.2 | c.6274-9C>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000251268.11 | |||
MEGF8 | NM_001410.3 | c.6073-9C>A | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEGF8 | ENST00000251268.11 | c.6274-9C>A | splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001271938.2 | A2 | |||
MEGF8 | ENST00000334370.8 | c.6073-9C>A | splice_polypyrimidine_tract_variant, intron_variant | 1 | P2 | ||||
MEGF8 | ENST00000378073.5 | c.-812-9C>A | splice_polypyrimidine_tract_variant, intron_variant | 5 | |||||
MEGF8 | ENST00000598762.1 | c.161+6233C>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 8AN: 223438Hom.: 0 AF XY: 0.0000244 AC XY: 3AN XY: 122808
GnomAD4 exome AF: 0.0000291 AC: 42AN: 1443164Hom.: 0 Cov.: 31 AF XY: 0.0000279 AC XY: 20AN XY: 716858
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at