rs373950003
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_004380.3(CREBBP):c.5874G>C(p.Ala1958Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000234 in 1,536,214 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 (★★). Synonymous variant affecting the same amino acid position (i.e. A1958A) has been classified as Likely benign.
Frequency
Consequence
NM_004380.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CREBBP | NM_004380.3 | c.5874G>C | p.Ala1958Ala | synonymous_variant | Exon 31 of 31 | ENST00000262367.10 | NP_004371.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CREBBP | ENST00000262367.10 | c.5874G>C | p.Ala1958Ala | synonymous_variant | Exon 31 of 31 | 1 | NM_004380.3 | ENSP00000262367.5 | ||
CREBBP | ENST00000382070.7 | c.5760G>C | p.Ala1920Ala | synonymous_variant | Exon 30 of 30 | 1 | ENSP00000371502.3 |
Frequencies
GnomAD3 genomes AF: 0.000147 AC: 22AN: 149710Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000494 AC: 7AN: 141672Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 76722
GnomAD4 exome AF: 0.0000101 AC: 14AN: 1386402Hom.: 0 Cov.: 41 AF XY: 0.00000438 AC XY: 3AN XY: 684714
GnomAD4 genome AF: 0.000147 AC: 22AN: 149812Hom.: 0 Cov.: 31 AF XY: 0.000151 AC XY: 11AN XY: 73082
ClinVar
Submissions by phenotype
CREBBP-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Rubinstein-Taybi syndrome Benign:1
- -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at