rs566716623
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001256545.2(MEGF10):āc.3005A>Cā(p.Tyr1002Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000656 in 152,334 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. Y1002C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001256545.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEGF10 | NM_001256545.2 | c.3005A>C | p.Tyr1002Ser | missense_variant | 23/25 | ENST00000503335.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEGF10 | ENST00000503335.7 | c.3005A>C | p.Tyr1002Ser | missense_variant | 23/25 | 1 | NM_001256545.2 | P1 | |
MEGF10 | ENST00000274473.6 | c.3005A>C | p.Tyr1002Ser | missense_variant | 24/26 | 1 | P1 | ||
MEGF10 | ENST00000510828.5 | n.504A>C | non_coding_transcript_exon_variant | 5/6 | 5 | ||||
MEGF10 | ENST00000515622.1 | n.206A>C | non_coding_transcript_exon_variant | 3/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245904Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133012
GnomAD4 exome Cov.: 29
GnomAD4 genome ? AF: 0.00000656 AC: 1AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74498
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at