12-2664928-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_000719.7(CACNA1C):c.4336C>T(p.Pro1446Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000719.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1C | ENST00000399603.6 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 5 | NM_001167623.2 | ENSP00000382512.1 | ||
CACNA1C | ENST00000399655.6 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | NM_000719.7 | ENSP00000382563.1 | ||
CACNA1C | ENST00000682544.1 | c.4570C>T | p.Pro1524Ser | missense_variant | 37/50 | ENSP00000507184.1 | ||||
CACNA1C | ENST00000406454.8 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/48 | 5 | ENSP00000385896.3 | |||
CACNA1C | ENST00000399634.6 | c.4303C>T | p.Pro1435Ser | missense_variant | 34/47 | 5 | ENSP00000382542.2 | |||
CACNA1C | ENST00000683824.1 | c.4501C>T | p.Pro1501Ser | missense_variant | 36/48 | ENSP00000507867.1 | ||||
CACNA1C | ENST00000347598.9 | c.4480C>T | p.Pro1494Ser | missense_variant | 37/49 | 1 | ENSP00000266376.6 | |||
CACNA1C | ENST00000344100.7 | c.4402C>T | p.Pro1468Ser | missense_variant | 35/47 | 1 | ENSP00000341092.3 | |||
CACNA1C | ENST00000327702.12 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/48 | 1 | ENSP00000329877.7 | |||
CACNA1C | ENST00000399617.6 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/48 | 5 | ENSP00000382526.1 | |||
CACNA1C | ENST00000682462.1 | c.4426C>T | p.Pro1476Ser | missense_variant | 35/47 | ENSP00000507105.1 | ||||
CACNA1C | ENST00000683781.1 | c.4426C>T | p.Pro1476Ser | missense_variant | 35/47 | ENSP00000507434.1 | ||||
CACNA1C | ENST00000683840.1 | c.4426C>T | p.Pro1476Ser | missense_variant | 35/47 | ENSP00000507612.1 | ||||
CACNA1C | ENST00000683956.1 | c.4426C>T | p.Pro1476Ser | missense_variant | 35/47 | ENSP00000506882.1 | ||||
CACNA1C | ENST00000399638.5 | c.4420C>T | p.Pro1474Ser | missense_variant | 36/48 | 1 | ENSP00000382547.1 | |||
CACNA1C | ENST00000335762.10 | c.4411C>T | p.Pro1471Ser | missense_variant | 36/48 | 5 | ENSP00000336982.5 | |||
CACNA1C | ENST00000399606.5 | c.4396C>T | p.Pro1466Ser | missense_variant | 36/48 | 1 | ENSP00000382515.1 | |||
CACNA1C | ENST00000399621.5 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | ENSP00000382530.1 | |||
CACNA1C | ENST00000399637.5 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | ENSP00000382546.1 | |||
CACNA1C | ENST00000402845.7 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | ENSP00000385724.3 | |||
CACNA1C | ENST00000399629.5 | c.4387C>T | p.Pro1463Ser | missense_variant | 35/47 | 1 | ENSP00000382537.1 | |||
CACNA1C | ENST00000682336.1 | c.4378C>T | p.Pro1460Ser | missense_variant | 35/47 | ENSP00000507898.1 | ||||
CACNA1C | ENST00000399591.5 | c.4303C>T | p.Pro1435Ser | missense_variant | 34/46 | 1 | ENSP00000382500.1 | |||
CACNA1C | ENST00000399595.5 | c.4303C>T | p.Pro1435Ser | missense_variant | 34/46 | 1 | ENSP00000382504.1 | |||
CACNA1C | ENST00000399649.5 | c.4297C>T | p.Pro1433Ser | missense_variant | 34/46 | 1 | ENSP00000382557.1 | |||
CACNA1C | ENST00000399597.5 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | ENSP00000382506.1 | |||
CACNA1C | ENST00000399601.5 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | ENSP00000382510.1 | |||
CACNA1C | ENST00000399641.6 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | ENSP00000382549.1 | |||
CACNA1C | ENST00000399644.5 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | 1 | ENSP00000382552.1 | |||
CACNA1C | ENST00000682835.1 | c.4336C>T | p.Pro1446Ser | missense_variant | 35/47 | ENSP00000507282.1 | ||||
CACNA1C | ENST00000683482.1 | c.4327C>T | p.Pro1443Ser | missense_variant | 35/47 | ENSP00000507169.1 | ||||
CACNA1C | ENST00000682686.1 | c.4303C>T | p.Pro1435Ser | missense_variant | 34/46 | ENSP00000507309.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250232Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135532
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461778Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727172
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at