rs758461435
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_000719.7(CACNA1C):c.3201G>A(p.Ala1067=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000398 in 1,608,892 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. A1067A) has been classified as Likely 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 | UniProt |
---|---|---|---|---|---|---|---|
CACNA1C | NM_000719.7 | c.3201G>A | p.Ala1067= | synonymous_variant | 25/47 | ENST00000399655.6 | |
CACNA1C | NM_001167623.2 | c.3201G>A | p.Ala1067= | synonymous_variant | 25/47 | ENST00000399603.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1C | ENST00000399603.6 | c.3201G>A | p.Ala1067= | synonymous_variant | 25/47 | 5 | NM_001167623.2 | ||
CACNA1C | ENST00000399655.6 | c.3201G>A | p.Ala1067= | synonymous_variant | 25/47 | 1 | NM_000719.7 | ||
CACNA1C-AS3 | ENST00000543559.1 | n.20+766C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152044Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000375 AC: 9AN: 240266Hom.: 0 AF XY: 0.0000538 AC XY: 7AN XY: 130038
GnomAD4 exome AF: 0.0000384 AC: 56AN: 1456848Hom.: 0 Cov.: 31 AF XY: 0.0000373 AC XY: 27AN XY: 724008
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74260
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 30, 2019 | - - |
Long QT syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 12, 2023 | - - |
Cardiovascular phenotype Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 23, 2017 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at