rs12434881
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000696121.1(CEBPE):n.261+563C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.384 in 305,462 control chromosomes in the GnomAD database, including 24,363 homozygotes. 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
ENST00000696121.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEBPE | ENST00000696121.1 | n.261+563C>T | intron_variant, non_coding_transcript_variant | ||||||
CEBPE | ENST00000696122.1 | n.42+224C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.365 AC: 55433AN: 151894Hom.: 11052 Cov.: 31
GnomAD4 exome AF: 0.404 AC: 61958AN: 153452Hom.: 13306 Cov.: 0 AF XY: 0.400 AC XY: 32039AN XY: 80094
GnomAD4 genome ? AF: 0.365 AC: 55466AN: 152010Hom.: 11057 Cov.: 31 AF XY: 0.362 AC XY: 26872AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at