chr5-160253613-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001308173.3(CCNJL):c.929G>A(p.Arg310Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,613,326 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R310W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001308173.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152054Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000322 AC: 8AN: 248348Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134698
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1461272Hom.: 0 Cov.: 31 AF XY: 0.0000426 AC XY: 31AN XY: 726864
GnomAD4 genome AF: 0.000105 AC: 16AN: 152054Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1073G>A (p.R358Q) alteration is located in exon 7 (coding exon 6) of the CCNJL gene. This alteration results from a G to A substitution at nucleotide position 1073, causing the arginine (R) at amino acid position 358 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