rs141903485
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001805.4(CEBPE):āc.463C>Gā(p.Leu155Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000343 in 1,459,090 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L155M) has been classified as Likely benign.
Frequency
Consequence
NM_001805.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEBPE | NM_001805.4 | c.463C>G | p.Leu155Val | missense_variant | 1/2 | ENST00000206513.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEBPE | ENST00000206513.6 | c.463C>G | p.Leu155Val | missense_variant | 1/2 | 1 | NM_001805.4 | P1 | |
CEBPE | ENST00000696121.1 | n.432C>G | non_coding_transcript_exon_variant | 2/3 | |||||
CEBPE | ENST00000696122.1 | n.209C>G | non_coding_transcript_exon_variant | 2/3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459090Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726022
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at