11-125625838-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The ENST00000427383.6(CHEK1):c.78C>T(p.Asn26Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000135 in 702,520 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 (no stars).
Frequency
Consequence
ENST00000427383.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000387 AC: 59AN: 152268Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000842 AC: 11AN: 130700Hom.: 0 AF XY: 0.0000701 AC XY: 5AN XY: 71362
GnomAD4 exome AF: 0.0000654 AC: 36AN: 550252Hom.: 0 Cov.: 0 AF XY: 0.0000671 AC XY: 20AN XY: 297866
GnomAD4 genome AF: 0.000387 AC: 59AN: 152268Hom.: 0 Cov.: 33 AF XY: 0.000296 AC XY: 22AN XY: 74396
ClinVar
Submissions by phenotype
CHEK1-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at