rs1273577069
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001805.4(CEBPE):c.496C>T(p.Leu166=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,457,000 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_001805.4 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 | UniProt |
---|---|---|---|---|---|---|---|
CEBPE | NM_001805.4 | c.496C>T | p.Leu166= | synonymous_variant | 1/2 | ENST00000206513.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEBPE | ENST00000206513.6 | c.496C>T | p.Leu166= | synonymous_variant | 1/2 | 1 | NM_001805.4 | P1 | |
CEBPE | ENST00000696121.1 | n.465C>T | non_coding_transcript_exon_variant | 2/3 | |||||
CEBPE | ENST00000696122.1 | n.242C>T | non_coding_transcript_exon_variant | 2/3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000413 AC: 1AN: 242176Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132272
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1457000Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724976
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at