NM_001025200.4:c.616G>A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001025200.4(CTRB2):c.616G>A(p.Val206Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000618 in 1,418,540 control chromosomes in the GnomAD database, including 40 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000638 AC: 89AN: 139478Hom.: 2 Cov.: 24
GnomAD3 exomes AF: 0.000854 AC: 100AN: 117062Hom.: 7 AF XY: 0.00109 AC XY: 68AN XY: 62538
GnomAD4 exome AF: 0.000615 AC: 786AN: 1278944Hom.: 38 Cov.: 24 AF XY: 0.000649 AC XY: 408AN XY: 628818
GnomAD4 genome AF: 0.000645 AC: 90AN: 139596Hom.: 2 Cov.: 24 AF XY: 0.000647 AC XY: 44AN XY: 67956
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.616G>A (p.V206I) 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 616, causing the valine (V) at amino acid position 206 to be replaced by an isoleucine (I). 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