12-12637597-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001310.4(CREBL2):c.241C>A(p.Gln81Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,605,358 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001310.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151920Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250246Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135370
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453438Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 723166
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151920Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74198
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.241C>A (p.Q81K) alteration is located in exon 3 (coding exon 3) of the CREBL2 gene. This alteration results from a C to A substitution at nucleotide position 241, causing the glutamine (Q) at amino acid position 81 to be replaced by a lysine (K). 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