rs775571017
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_000719.7(CACNA1C):c.2430G>A(p.Thr810Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,577,292 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. T810T) has been classified as Benign.
Frequency
Consequence
NM_000719.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CACNA1C | NM_000719.7 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | ENST00000399655.6 | NP_000710.5 | |
CACNA1C | NM_001167623.2 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | ENST00000399603.6 | NP_001161095.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1C | ENST00000399603.6 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 5 | NM_001167623.2 | ENSP00000382512.1 | ||
CACNA1C | ENST00000399655.6 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | NM_000719.7 | ENSP00000382563.1 | ||
CACNA1C | ENST00000682544.1 | c.2520G>A | p.Thr840Thr | synonymous_variant | 17/50 | ENSP00000507184.1 | ||||
CACNA1C | ENST00000406454.8 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/48 | 5 | ENSP00000385896.3 | |||
CACNA1C | ENST00000399634.6 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 5 | ENSP00000382542.2 | |||
CACNA1C | ENST00000683824.1 | c.2595G>A | p.Thr865Thr | synonymous_variant | 18/48 | ENSP00000507867.1 | ||||
CACNA1C | ENST00000347598.9 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/49 | 1 | ENSP00000266376.6 | |||
CACNA1C | ENST00000344100.7 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000341092.3 | |||
CACNA1C | ENST00000327702.12 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/48 | 1 | ENSP00000329877.7 | |||
CACNA1C | ENST00000399617.6 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/48 | 5 | ENSP00000382526.1 | |||
CACNA1C | ENST00000682462.1 | c.2520G>A | p.Thr840Thr | synonymous_variant | 17/47 | ENSP00000507105.1 | ||||
CACNA1C | ENST00000683781.1 | c.2520G>A | p.Thr840Thr | synonymous_variant | 17/47 | ENSP00000507434.1 | ||||
CACNA1C | ENST00000683840.1 | c.2520G>A | p.Thr840Thr | synonymous_variant | 17/47 | ENSP00000507612.1 | ||||
CACNA1C | ENST00000683956.1 | c.2520G>A | p.Thr840Thr | synonymous_variant | 17/47 | ENSP00000506882.1 | ||||
CACNA1C | ENST00000399638.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/48 | 1 | ENSP00000382547.1 | |||
CACNA1C | ENST00000335762.10 | c.2505G>A | p.Thr835Thr | synonymous_variant | 18/48 | 5 | ENSP00000336982.5 | |||
CACNA1C | ENST00000399606.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/48 | 1 | ENSP00000382515.1 | |||
CACNA1C | ENST00000399621.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000382530.1 | |||
CACNA1C | ENST00000399637.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000382546.1 | |||
CACNA1C | ENST00000402845.7 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000385724.3 | |||
CACNA1C | ENST00000399629.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000382537.1 | |||
CACNA1C | ENST00000682336.1 | c.2505G>A | p.Thr835Thr | synonymous_variant | 18/47 | ENSP00000507898.1 | ||||
CACNA1C | ENST00000399591.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/46 | 1 | ENSP00000382500.1 | |||
CACNA1C | ENST00000399595.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/46 | 1 | ENSP00000382504.1 | |||
CACNA1C | ENST00000399649.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/46 | 1 | ENSP00000382557.1 | |||
CACNA1C | ENST00000399597.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000382506.1 | |||
CACNA1C | ENST00000399601.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000382510.1 | |||
CACNA1C | ENST00000399641.6 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000382549.1 | |||
CACNA1C | ENST00000399644.5 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | 1 | ENSP00000382552.1 | |||
CACNA1C | ENST00000682835.1 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/47 | ENSP00000507282.1 | ||||
CACNA1C | ENST00000683482.1 | c.2421G>A | p.Thr807Thr | synonymous_variant | 17/47 | ENSP00000507169.1 | ||||
CACNA1C | ENST00000682686.1 | c.2430G>A | p.Thr810Thr | synonymous_variant | 17/46 | ENSP00000507309.1 | ||||
CACNA1C | ENST00000480911.6 | n.*1037G>A | non_coding_transcript_exon_variant | 15/27 | 5 | ENSP00000437936.2 | ||||
CACNA1C | ENST00000480911.6 | n.*1037G>A | 3_prime_UTR_variant | 15/27 | 5 | ENSP00000437936.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152172Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000268 AC: 5AN: 186368Hom.: 0 AF XY: 0.0000499 AC XY: 5AN XY: 100108
GnomAD4 exome AF: 0.0000274 AC: 39AN: 1425120Hom.: 0 Cov.: 31 AF XY: 0.0000283 AC XY: 20AN XY: 705760
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152172Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2015 | - - |
Long QT syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jul 13, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at