19-33379333-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001806.4(CEBPG):c.94C>T(p.Pro32Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000405 in 1,613,852 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 Uncertain significance (★).
Frequency
Consequence
NM_001806.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEBPG | ENST00000284000.9 | c.94C>T | p.Pro32Ser | missense_variant | Exon 2 of 2 | 1 | NM_001806.4 | ENSP00000284000.2 | ||
CEBPG | ENST00000652630.1 | n.94C>T | non_coding_transcript_exon_variant | Exon 2 of 3 | ENSP00000499062.1 | |||||
CEBPG | ENST00000585933.2 | c.94C>T | p.Pro32Ser | missense_variant | Exon 2 of 2 | 2 | ENSP00000466022.2 |
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152100Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000207 AC: 52AN: 251142Hom.: 0 AF XY: 0.000206 AC XY: 28AN XY: 135768
GnomAD4 exome AF: 0.000427 AC: 624AN: 1461634Hom.: 0 Cov.: 30 AF XY: 0.000415 AC XY: 302AN XY: 727102
GnomAD4 genome AF: 0.000197 AC: 30AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.000202 AC XY: 15AN XY: 74404
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.94C>T (p.P32S) alteration is located in exon 2 (coding exon 1) of the CEBPG gene. This alteration results from a C to T substitution at nucleotide position 94, causing the proline (P) at amino acid position 32 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at