16-75204850-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001025200.4(CTRB2):c.553G>A(p.Glu185Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001025200.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000157 AC: 2AN: 127040Hom.: 0 Cov.: 19
GnomAD3 exomes AF: 0.0000148 AC: 2AN: 135268Hom.: 1 AF XY: 0.0000278 AC XY: 2AN XY: 71898
GnomAD4 exome AF: 0.0000652 AC: 77AN: 1181046Hom.: 3 Cov.: 18 AF XY: 0.0000665 AC XY: 39AN XY: 586092
GnomAD4 genome AF: 0.0000157 AC: 2AN: 127040Hom.: 0 Cov.: 19 AF XY: 0.0000328 AC XY: 2AN XY: 60948
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.553G>A (p.E185K) alteration is located in exon 6 (coding exon 6) of the CTRB2 gene. This alteration results from a G to A substitution at nucleotide position 553, causing the glutamic acid (E) at amino acid position 185 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