rs1199384366
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004364.5(CEBPA):c.684G>T(p.Pro228=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. P228P) has been classified as Likely benign.
Frequency
Consequence
NM_004364.5 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 |
---|---|---|---|---|---|---|---|
CEBPA | NM_004364.5 | c.684G>T | p.Pro228= | synonymous_variant | 1/1 | ENST00000498907.3 | |
CEBPA | NM_001287424.2 | c.789G>T | p.Pro263= | synonymous_variant | 1/1 | ||
CEBPA | NM_001287435.2 | c.642G>T | p.Pro214= | synonymous_variant | 1/1 | ||
CEBPA | NM_001285829.2 | c.327G>T | p.Pro109= | synonymous_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEBPA | ENST00000498907.3 | c.684G>T | p.Pro228= | synonymous_variant | 1/1 | NM_004364.5 | P1 | ||
ENST00000587312.1 | n.357-84C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1004604Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 475216
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at