rs1060504477
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_004364.5(CEBPA):āc.387C>Gā(p.Pro129=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000237 in 1,182,176 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 (ā ). Synonymous variant affecting the same amino acid position (i.e. P129P) 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 -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEBPA | NM_004364.5 | c.387C>G | p.Pro129= | synonymous_variant | 1/1 | ENST00000498907.3 | |
CEBPA | NM_001287424.2 | c.492C>G | p.Pro164= | synonymous_variant | 1/1 | ||
CEBPA | NM_001287435.2 | c.345C>G | p.Pro115= | synonymous_variant | 1/1 | ||
CEBPA | NM_001285829.2 | c.30C>G | p.Pro10= | synonymous_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEBPA | ENST00000498907.3 | c.387C>G | p.Pro129= | synonymous_variant | 1/1 | NM_004364.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000202 AC: 3AN: 148758Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000242 AC: 25AN: 1033418Hom.: 0 Cov.: 33 AF XY: 0.0000266 AC XY: 13AN XY: 488366
GnomAD4 genome ? AF: 0.0000202 AC: 3AN: 148758Hom.: 0 Cov.: 32 AF XY: 0.0000276 AC XY: 2AN XY: 72500
ClinVar
Submissions by phenotype
Acute myeloid leukemia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 13, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at