6-36745485-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020939.2(CPNE5):c.1231G>A(p.Gly411Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000182 in 1,600,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020939.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000224 AC: 5AN: 223614Hom.: 0 AF XY: 0.0000166 AC XY: 2AN XY: 120648
GnomAD4 exome AF: 0.000195 AC: 282AN: 1448404Hom.: 0 Cov.: 31 AF XY: 0.000178 AC XY: 128AN XY: 719120
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152184Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1231G>A (p.G411S) alteration is located in exon 17 (coding exon 17) of the CPNE5 gene. This alteration results from a G to A substitution at nucleotide position 1231, causing the glycine (G) at amino acid position 411 to be replaced by a serine (S). 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