19-33301773-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004364.5(CEBPA):āc.642C>Gā(p.Gly214Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000284 in 1,057,580 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_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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CEBPA | NM_004364.5 | c.642C>G | p.Gly214Gly | synonymous_variant | Exon 1 of 1 | ENST00000498907.3 | NP_004355.2 | |
CEBPA | NM_001287424.2 | c.747C>G | p.Gly249Gly | synonymous_variant | Exon 1 of 1 | NP_001274353.1 | ||
CEBPA | NM_001287435.2 | c.600C>G | p.Gly200Gly | synonymous_variant | Exon 1 of 1 | NP_001274364.1 | ||
CEBPA | NM_001285829.2 | c.285C>G | p.Gly95Gly | synonymous_variant | Exon 1 of 1 | NP_001272758.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000284 AC: 3AN: 1057580Hom.: 0 Cov.: 22 AF XY: 0.00000197 AC XY: 1AN XY: 507192
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.