rs35468447
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001271938.2(MEGF8):āc.4842C>Gā(p.Thr1614=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,016 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. Synonymous variant affecting the same amino acid position (i.e. T1614T) has been classified as Likely benign.
Frequency
Consequence
NM_001271938.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEGF8 | NM_001271938.2 | c.4842C>G | p.Thr1614= | synonymous_variant | 28/42 | ENST00000251268.11 | |
MEGF8 | NM_001410.3 | c.4641C>G | p.Thr1547= | synonymous_variant | 27/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEGF8 | ENST00000251268.11 | c.4842C>G | p.Thr1614= | synonymous_variant | 28/42 | 5 | NM_001271938.2 | A2 | |
MEGF8 | ENST00000334370.8 | c.4641C>G | p.Thr1547= | synonymous_variant | 27/41 | 1 | P2 | ||
MEGF8 | ENST00000378073.5 | c.-2244C>G | 5_prime_UTR_variant | 28/41 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249730Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135080
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461016Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726798
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at