chr17-66878980-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145811.3(CACNG5):c.205C>T(p.Arg69Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000868 in 1,612,576 control chromosomes in the GnomAD database, including 1 homozygotes. 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. R69P) has been classified as Uncertain significance.
Frequency
Consequence
NM_145811.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNG5 | ENST00000533854.6 | c.205C>T | p.Arg69Trp | missense_variant | Exon 3 of 6 | 2 | NM_145811.3 | ENSP00000436836.1 | ||
CACNG5 | ENST00000307139.4 | c.205C>T | p.Arg69Trp | missense_variant | Exon 2 of 5 | 1 | ENSP00000303092.3 | |||
CACNG5 | ENST00000673855.1 | c.205C>T | p.Arg69Trp | missense_variant | Exon 2 of 4 | ENSP00000501267.1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250760Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135516
GnomAD4 exome AF: 0.0000883 AC: 129AN: 1460252Hom.: 1 Cov.: 30 AF XY: 0.0000743 AC XY: 54AN XY: 726490
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.205C>T (p.R69W) alteration is located in exon 2 (coding exon 2) of the CACNG5 gene. This alteration results from a C to T substitution at nucleotide position 205, causing the arginine (R) at amino acid position 69 to be replaced by a tryptophan (W). 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