19-33301782-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_004364.5(CEBPA):c.633G>A(p.Ala211Ala) 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. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A211A) 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 -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CEBPA | NM_004364.5 | c.633G>A | p.Ala211Ala | synonymous_variant | Exon 1 of 1 | ENST00000498907.3 | NP_004355.2 | |
CEBPA | NM_001287424.2 | c.738G>A | p.Ala246Ala | synonymous_variant | Exon 1 of 1 | NP_001274353.1 | ||
CEBPA | NM_001287435.2 | c.591G>A | p.Ala197Ala | synonymous_variant | Exon 1 of 1 | NP_001274364.1 | ||
CEBPA | NM_001285829.2 | c.276G>A | p.Ala92Ala | synonymous_variant | Exon 1 of 1 | NP_001272758.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1067178Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 512736
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Acute myeloid leukemia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.