11-118893622-C-G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001716.5(CXCR5):c.78C>G(p.Asn26Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,605,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001716.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000405 AC: 1AN: 247048 AF XY: 0.00000750 show subpopulations
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1453352Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 2AN XY: 721742 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.78C>G (p.N26K) alteration is located in exon 2 (coding exon 2) of the CXCR5 gene. This alteration results from a C to G substitution at nucleotide position 78, causing the asparagine (N) at amino acid position 26 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