chr19-33301839-C-T
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_004364.5(CEBPA):c.576G>A(p.Pro192=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000473 in 1,289,652 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P192P) has been classified as Likely benign.
Frequency
Consequence
NM_004364.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEBPA | NM_004364.5 | c.576G>A | p.Pro192= | synonymous_variant | 1/1 | ENST00000498907.3 | |
CEBPA | NM_001287424.2 | c.681G>A | p.Pro227= | synonymous_variant | 1/1 | ||
CEBPA | NM_001287435.2 | c.534G>A | p.Pro178= | synonymous_variant | 1/1 | ||
CEBPA | NM_001285829.2 | c.219G>A | p.Pro73= | synonymous_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEBPA | ENST00000498907.3 | c.576G>A | p.Pro192= | synonymous_variant | 1/1 | NM_004364.5 | P1 | ||
ENST00000587312.1 | n.381C>T | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000203 AC: 3AN: 147844Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000508 AC: 58AN: 1141808Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 30AN XY: 557326
GnomAD4 genome AF: 0.0000203 AC: 3AN: 147844Hom.: 0 Cov.: 32 AF XY: 0.0000139 AC XY: 1AN XY: 71982
ClinVar
Submissions by phenotype
CEBPA-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 18, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Acute myeloid leukemia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 09, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at