10-125026145-G-C
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_022802.3(CTBP2):āc.1615C>Gā(p.Gln539Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.483 in 1,605,108 control chromosomes in the GnomAD database, including 189,647 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_022802.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.462 AC: 70181AN: 152010Hom.: 16652 Cov.: 33
GnomAD3 exomes AF: 0.475 AC: 117146AN: 246448Hom.: 28839 AF XY: 0.480 AC XY: 63909AN XY: 133166
GnomAD4 exome AF: 0.485 AC: 704806AN: 1452980Hom.: 172984 Cov.: 72 AF XY: 0.485 AC XY: 349765AN XY: 721088
GnomAD4 genome AF: 0.462 AC: 70229AN: 152128Hom.: 16663 Cov.: 33 AF XY: 0.465 AC XY: 34548AN XY: 74370
ClinVar
Submissions by phenotype
CTBP2-related disorder Benign:1
This variant is classified as 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