NM_004380.3:c.3251-2583T>G
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004380.3(CREBBP):c.3251-2583T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000772 in 518,056 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.
Frequency
Consequence
NM_004380.3 intron
Scores
Clinical Significance
Conservation
Publications
- Rubinstein-Taybi syndromeInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen, Illumina
- Rubinstein-Taybi syndrome due to CREBBP mutationsInheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics, G2P
- Menke-Hennekam syndrome 1Inheritance: AD Classification: STRONG Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CREBBP | NM_004380.3 | c.3251-2583T>G | intron_variant | Intron 16 of 30 | ENST00000262367.10 | NP_004371.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CREBBP | ENST00000262367.10 | c.3251-2583T>G | intron_variant | Intron 16 of 30 | 1 | NM_004380.3 | ENSP00000262367.5 | |||
CREBBP | ENST00000382070.7 | c.3137-2583T>G | intron_variant | Intron 15 of 29 | 1 | ENSP00000371502.3 | ||||
CREBBP | ENST00000570939.2 | c.1856-2583T>G | intron_variant | Intron 11 of 22 | 5 | ENSP00000461002.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151748Hom.: 0 Cov.: 30 show subpopulations
GnomAD2 exomes AF: 0.00000879 AC: 2AN: 227576 AF XY: 0.00000795 show subpopulations
GnomAD4 exome AF: 0.00000546 AC: 2AN: 366308Hom.: 0 Cov.: 0 AF XY: 0.00000952 AC XY: 2AN XY: 210058 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151748Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74082 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at