11-64829786-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017525.3(CDC42BPG):c.3652C>T(p.Arg1218Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000888 in 1,599,184 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R1218H) has been classified as Uncertain significance.
Frequency
Consequence
NM_017525.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDC42BPG | NM_017525.3 | c.3652C>T | p.Arg1218Cys | missense_variant | 30/37 | ENST00000342711.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDC42BPG | ENST00000342711.6 | c.3652C>T | p.Arg1218Cys | missense_variant | 30/37 | 1 | NM_017525.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 152228Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000108 AC: 23AN: 212778Hom.: 0 AF XY: 0.000126 AC XY: 15AN XY: 119026
GnomAD4 exome AF: 0.0000871 AC: 126AN: 1446838Hom.: 0 Cov.: 78 AF XY: 0.0000903 AC XY: 65AN XY: 719484
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152346Hom.: 0 Cov.: 33 AF XY: 0.0000805 AC XY: 6AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 29, 2023 | The c.3652C>T (p.R1218C) alteration is located in exon 30 (coding exon 30) of the CDC42BPG gene. This alteration results from a C to T substitution at nucleotide position 3652, causing the arginine (R) at amino acid position 1218 to be replaced by a cysteine (C). 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