rs1057518844
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP2PP3_Strong
The NM_004380.3(CREBBP):c.3698G>T(p.Arg1233Met) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 13/23 in silico tools predict a damaging outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. 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. R1233K) has been classified as Likely pathogenic.
Frequency
Consequence
NM_004380.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CREBBP | NM_004380.3 | c.3698G>T | p.Arg1233Met | missense_variant, splice_region_variant | 19/31 | ENST00000262367.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CREBBP | ENST00000262367.10 | c.3698G>T | p.Arg1233Met | missense_variant, splice_region_variant | 19/31 | 1 | NM_004380.3 | P1 | |
CREBBP | ENST00000382070.7 | c.3584G>T | p.Arg1195Met | missense_variant, splice_region_variant | 18/30 | 1 | |||
CREBBP | ENST00000570939.2 | c.2303G>T | p.Ser768Ile | missense_variant, splice_region_variant | 14/23 | 5 | |||
CREBBP | ENST00000573517.6 | c.5G>T | p.Arg2Met | missense_variant, splice_region_variant | 1/7 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.