12-2053568-CAAT-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_000719.7(CACNA1C):c.7_9delAAT(p.Asn3del) variant causes a conservative inframe deletion change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000719.7 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CACNA1C | NM_000719.7 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | ENST00000399655.6 | NP_000710.5 | |
CACNA1C | NM_001167623.2 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | ENST00000399603.6 | NP_001161095.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1C | ENST00000399603.6 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 5 | NM_001167623.2 | ENSP00000382512.1 | ||
CACNA1C | ENST00000399655.6 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | NM_000719.7 | ENSP00000382563.1 | ||
CACNA1C | ENST00000406454.8 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 48 | 5 | ENSP00000385896.3 | |||
CACNA1C | ENST00000399634.6 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 5 | ENSP00000382542.2 | |||
CACNA1C | ENST00000347598.9 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 49 | 1 | ENSP00000266376.6 | |||
CACNA1C | ENST00000344100.7 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000341092.3 | |||
CACNA1C | ENST00000327702.12 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 48 | 1 | ENSP00000329877.7 | |||
CACNA1C | ENST00000399617.6 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 48 | 5 | ENSP00000382526.1 | |||
CACNA1C | ENST00000399638.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 48 | 1 | ENSP00000382547.1 | |||
CACNA1C | ENST00000335762.10 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 48 | 5 | ENSP00000336982.5 | |||
CACNA1C | ENST00000399606.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 48 | 1 | ENSP00000382515.1 | |||
CACNA1C | ENST00000399621.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000382530.1 | |||
CACNA1C | ENST00000399637.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000382546.1 | |||
CACNA1C | ENST00000402845.7 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000385724.3 | |||
CACNA1C | ENST00000399629.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000382537.1 | |||
CACNA1C | ENST00000682336.1 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | ENSP00000507898.1 | ||||
CACNA1C | ENST00000399591.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 46 | 1 | ENSP00000382500.1 | |||
CACNA1C | ENST00000399595.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 46 | 1 | ENSP00000382504.1 | |||
CACNA1C | ENST00000399649.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 46 | 1 | ENSP00000382557.1 | |||
CACNA1C | ENST00000399597.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000382506.1 | |||
CACNA1C | ENST00000399601.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000382510.1 | |||
CACNA1C | ENST00000399641.6 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000382549.1 | |||
CACNA1C | ENST00000399644.5 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | 1 | ENSP00000382552.1 | |||
CACNA1C | ENST00000682835.1 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | ENSP00000507282.1 | ||||
CACNA1C | ENST00000683482.1 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 47 | ENSP00000507169.1 | ||||
CACNA1C | ENST00000682686.1 | c.7_9delAAT | p.Asn3del | conservative_inframe_deletion | Exon 1 of 46 | ENSP00000507309.1 | ||||
CACNA1C | ENST00000682544.1 | c.140-61655_140-61653delAAT | intron_variant | Intron 1 of 49 | ENSP00000507184.1 | |||||
CACNA1C | ENST00000683824.1 | c.140-61655_140-61653delAAT | intron_variant | Intron 1 of 47 | ENSP00000507867.1 | |||||
CACNA1C | ENST00000682462.1 | c.140-61655_140-61653delAAT | intron_variant | Intron 1 of 46 | ENSP00000507105.1 | |||||
CACNA1C | ENST00000683781.1 | c.140-61655_140-61653delAAT | intron_variant | Intron 1 of 46 | ENSP00000507434.1 | |||||
CACNA1C | ENST00000683840.1 | c.140-61655_140-61653delAAT | intron_variant | Intron 1 of 46 | ENSP00000507612.1 | |||||
CACNA1C | ENST00000683956.1 | c.140-61655_140-61653delAAT | intron_variant | Intron 1 of 46 | ENSP00000506882.1 | |||||
CACNA1C | ENST00000480911.6 | n.7_9delAAT | non_coding_transcript_exon_variant | Exon 1 of 27 | 5 | ENSP00000437936.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
The c.7_9delAAT variant (also known as p.N3del) is located in coding exon 1 of the CACNA1C gene. This variant results from an in-frame AAT deletion at nucleotide positions 7 to 9. This results in the in-frame deletion of an asparagine at codon 3. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.