X-120874974-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001145718.3(CT47B1):c.697G>C(p.Glu233Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000538 in 1,208,975 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 19 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001145718.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000355 AC: 4AN: 112653Hom.: 0 Cov.: 22 AF XY: 0.0000574 AC XY: 2AN XY: 34825
GnomAD3 exomes AF: 0.0000438 AC: 8AN: 182615Hom.: 0 AF XY: 0.0000444 AC XY: 3AN XY: 67569
GnomAD4 exome AF: 0.0000556 AC: 61AN: 1096322Hom.: 0 Cov.: 31 AF XY: 0.0000469 AC XY: 17AN XY: 362306
GnomAD4 genome AF: 0.0000355 AC: 4AN: 112653Hom.: 0 Cov.: 22 AF XY: 0.0000574 AC XY: 2AN XY: 34825
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.697G>C (p.E233Q) alteration is located in exon 1 (coding exon 1) of the CT47B1 gene. This alteration results from a G to C substitution at nucleotide position 697, causing the glutamic acid (E) at amino acid position 233 to be replaced by a glutamine (Q). 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