rs571969199
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_004364.5(CEBPA):c.756G>T(p.Ala252=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00146 in 1,488,680 control chromosomes in the GnomAD database, including 26 homozygotes. 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. A252A) 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 -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEBPA | NM_004364.5 | c.756G>T | p.Ala252= | synonymous_variant | 1/1 | ENST00000498907.3 | |
CEBPA | NM_001287424.2 | c.861G>T | p.Ala287= | synonymous_variant | 1/1 | ||
CEBPA | NM_001287435.2 | c.714G>T | p.Ala238= | synonymous_variant | 1/1 | ||
CEBPA | NM_001285829.2 | c.399G>T | p.Ala133= | synonymous_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEBPA | ENST00000498907.3 | c.756G>T | p.Ala252= | synonymous_variant | 1/1 | NM_004364.5 | P1 | ||
ENST00000587312.1 | n.356+25C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00707 AC: 1058AN: 149722Hom.: 14 Cov.: 32
GnomAD3 exomes AF: 0.00183 AC: 176AN: 96236Hom.: 3 AF XY: 0.00150 AC XY: 81AN XY: 54102
GnomAD4 exome AF: 0.000830 AC: 1111AN: 1338850Hom.: 12 Cov.: 31 AF XY: 0.000756 AC XY: 499AN XY: 659876
GnomAD4 genome ? AF: 0.00708 AC: 1061AN: 149830Hom.: 14 Cov.: 32 AF XY: 0.00689 AC XY: 504AN XY: 73142
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Nov 15, 2018 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 14, 2020 | - - |
Acute myeloid leukemia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at