NM_000719.7:c.1126G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_000719.7(CACNA1C):āc.1126G>Cā(p.Val376Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000014 in 1,430,806 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in Lovd. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V376I) has been classified as Likely benign.
Frequency
Consequence
NM_000719.7 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 |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1C | ENST00000399655.6 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | NM_000719.7 | ENSP00000382563.1 | ||
CACNA1C | ENST00000682544.1 | c.1216G>C | p.Val406Leu | missense_variant | Exon 8 of 50 | ENSP00000507184.1 | ||||
CACNA1C | ENST00000347598.9 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 49 | 1 | ENSP00000266376.6 | |||
CACNA1C | ENST00000344100.7 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000341092.3 | |||
CACNA1C | ENST00000327702.12 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 48 | 1 | ENSP00000329877.7 | |||
CACNA1C | ENST00000399638.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 48 | 1 | ENSP00000382547.1 | |||
CACNA1C | ENST00000335762.10 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 48 | 5 | ENSP00000336982.5 | |||
CACNA1C | ENST00000399606.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 48 | 1 | ENSP00000382515.1 | |||
CACNA1C | ENST00000399621.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000382530.1 | |||
CACNA1C | ENST00000399637.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000382546.1 | |||
CACNA1C | ENST00000402845.7 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000385724.3 | |||
CACNA1C | ENST00000399629.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000382537.1 | |||
CACNA1C | ENST00000682336.1 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | ENSP00000507898.1 | ||||
CACNA1C | ENST00000399591.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 46 | 1 | ENSP00000382500.1 | |||
CACNA1C | ENST00000399595.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 46 | 1 | ENSP00000382504.1 | |||
CACNA1C | ENST00000399649.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 46 | 1 | ENSP00000382557.1 | |||
CACNA1C | ENST00000399597.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000382506.1 | |||
CACNA1C | ENST00000399601.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000382510.1 | |||
CACNA1C | ENST00000399644.5 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 47 | 1 | ENSP00000382552.1 | |||
CACNA1C | ENST00000683482.1 | c.1117G>C | p.Val373Leu | missense_variant | Exon 8 of 47 | ENSP00000507169.1 | ||||
CACNA1C | ENST00000682686.1 | c.1126G>C | p.Val376Leu | missense_variant | Exon 8 of 46 | ENSP00000507309.1 | ||||
CACNA1C | ENST00000399603.6 | c.1217+315G>C | intron_variant | Intron 8 of 46 | 5 | NM_001167623.2 | ENSP00000382512.1 | |||
CACNA1C | ENST00000406454.8 | c.1217+315G>C | intron_variant | Intron 8 of 47 | 5 | ENSP00000385896.3 | ||||
CACNA1C | ENST00000399634.6 | c.1217+315G>C | intron_variant | Intron 8 of 46 | 5 | ENSP00000382542.2 | ||||
CACNA1C | ENST00000683824.1 | c.1307+315G>C | intron_variant | Intron 8 of 47 | ENSP00000507867.1 | |||||
CACNA1C | ENST00000399617.6 | c.1217+315G>C | intron_variant | Intron 8 of 47 | 5 | ENSP00000382526.1 | ||||
CACNA1C | ENST00000682462.1 | c.1307+315G>C | intron_variant | Intron 8 of 46 | ENSP00000507105.1 | |||||
CACNA1C | ENST00000683781.1 | c.1307+315G>C | intron_variant | Intron 8 of 46 | ENSP00000507434.1 | |||||
CACNA1C | ENST00000683840.1 | c.1307+315G>C | intron_variant | Intron 8 of 46 | ENSP00000507612.1 | |||||
CACNA1C | ENST00000683956.1 | c.1307+315G>C | intron_variant | Intron 8 of 46 | ENSP00000506882.1 | |||||
CACNA1C | ENST00000399641.6 | c.1217+315G>C | intron_variant | Intron 8 of 46 | 1 | ENSP00000382549.1 | ||||
CACNA1C | ENST00000682835.1 | c.1217+315G>C | intron_variant | Intron 8 of 46 | ENSP00000507282.1 | |||||
CACNA1C | ENST00000480911.6 | n.1113+11468G>C | intron_variant | Intron 7 of 26 | 5 | ENSP00000437936.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1430806Hom.: 0 Cov.: 27 AF XY: 0.00000280 AC XY: 2AN XY: 713984
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.