17-50561582-G-C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_018896.5(CACNA1G):c.123G>C(p.Pro41=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000832 in 1,561,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P41P) has been classified as Likely benign.
Frequency
Consequence
NM_018896.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1G | NM_018896.5 | c.123G>C | p.Pro41= | synonymous_variant | 1/38 | ENST00000359106.10 | |
CACNA1G-AS1 | NR_038439.1 | n.181+346C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1G | ENST00000359106.10 | c.123G>C | p.Pro41= | synonymous_variant | 1/38 | 1 | NM_018896.5 | A2 | |
CACNA1G-AS1 | ENST00000505793.1 | n.181+346C>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152034Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000374 AC: 6AN: 160224Hom.: 0 AF XY: 0.0000340 AC XY: 3AN XY: 88348
GnomAD4 exome AF: 0.0000894 AC: 126AN: 1409540Hom.: 0 Cov.: 32 AF XY: 0.0000875 AC XY: 61AN XY: 697048
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74372
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at