chr17-66878981-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145811.3(CACNG5):āc.206G>Cā(p.Arg69Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,460,260 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R69Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_145811.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNG5 | NM_145811.3 | c.206G>C | p.Arg69Pro | missense_variant | 3/6 | ENST00000533854.6 | |
CACNG5 | NM_001371476.1 | c.206G>C | p.Arg69Pro | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNG5 | ENST00000533854.6 | c.206G>C | p.Arg69Pro | missense_variant | 3/6 | 2 | NM_145811.3 | P1 | |
CACNG5 | ENST00000307139.4 | c.206G>C | p.Arg69Pro | missense_variant | 2/5 | 1 | P1 | ||
CACNG5 | ENST00000673855.1 | c.206G>C | p.Arg69Pro | missense_variant | 2/4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250756Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135508
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460260Hom.: 0 Cov.: 30 AF XY: 0.0000179 AC XY: 13AN XY: 726484
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 27, 2023 | The c.206G>C (p.R69P) alteration is located in exon 2 (coding exon 2) of the CACNG5 gene. This alteration results from a G to C substitution at nucleotide position 206, causing the arginine (R) at amino acid position 69 to be replaced by a proline (P). 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