7-28494906-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182898.4(CREB5):c.76C>T(p.Arg26Cys) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000317 in 1,577,058 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R26H) has been classified as Uncertain significance.
Frequency
Consequence
NM_182898.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000666 AC: 1AN: 150144Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000906 AC: 2AN: 220710Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 119834
GnomAD4 exome AF: 0.00000280 AC: 4AN: 1426914Hom.: 0 Cov.: 30 AF XY: 0.00000282 AC XY: 2AN XY: 709750
GnomAD4 genome AF: 0.00000666 AC: 1AN: 150144Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73054
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.76C>T (p.R26C) alteration is located in exon 3 (coding exon 3) of the CREB5 gene. This alteration results from a C to T substitution at nucleotide position 76, causing the arginine (R) at amino acid position 26 to be replaced by a cysteine (C). 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