chr16-3729210-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_004380.3(CREBBP):āc.5837C>Gā(p.Pro1946Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000218 in 1,374,896 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1946A) has been classified as Uncertain significance.
Frequency
Consequence
NM_004380.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CREBBP | NM_004380.3 | c.5837C>G | p.Pro1946Arg | missense_variant | 31/31 | ENST00000262367.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CREBBP | ENST00000262367.10 | c.5837C>G | p.Pro1946Arg | missense_variant | 31/31 | 1 | NM_004380.3 | P1 | |
CREBBP | ENST00000382070.7 | c.5723C>G | p.Pro1908Arg | missense_variant | 30/30 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 3AN: 151840Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.00000218 AC: 3AN: 1374896Hom.: 0 Cov.: 38 AF XY: 0.00000147 AC XY: 1AN XY: 678020
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000198 AC: 3AN: 151840Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74144
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at