rs759949928
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001127222.2(CACNA1A):c.6456C>T(p.His2152His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000801 in 1,248,358 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.
Frequency
Consequence
NM_001127222.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1A | ENST00000360228.11 | c.6456C>T | p.His2152His | synonymous_variant | Exon 45 of 47 | 1 | NM_001127222.2 | ENSP00000353362.5 | ||
CACNA1A | ENST00000638029.1 | c.6474C>T | p.His2158His | synonymous_variant | Exon 46 of 48 | 5 | ENSP00000489829.1 | |||
CACNA1A | ENST00000573710.7 | c.6462C>T | p.His2154His | synonymous_variant | Exon 45 of 47 | 5 | ENSP00000460092.3 | |||
CACNA1A | ENST00000635727.1 | c.6459C>T | p.His2153His | synonymous_variant | Exon 45 of 47 | 5 | ENSP00000490001.1 | |||
CACNA1A | ENST00000637769.1 | c.6459C>T | p.His2153His | synonymous_variant | Exon 45 of 47 | 1 | ENSP00000489778.1 | |||
CACNA1A | ENST00000636012.1 | c.6423C>T | p.His2141His | synonymous_variant | Exon 44 of 46 | 5 | ENSP00000490223.1 | |||
CACNA1A | ENST00000637736.1 | c.6318C>T | p.His2106His | synonymous_variant | Exon 44 of 46 | 5 | ENSP00000489861.1 | |||
CACNA1A | ENST00000636389.1 | c.6459C>T | p.His2153His | synonymous_variant | Exon 45 of 47 | 5 | ENSP00000489992.1 | |||
CACNA1A | ENST00000637432.1 | c.6474C>T | p.His2158His | synonymous_variant | Exon 46 of 48 | 5 | ENSP00000490617.1 | |||
CACNA1A | ENST00000636549.1 | c.6465C>T | p.His2155His | synonymous_variant | Exon 46 of 48 | 5 | ENSP00000490578.1 | |||
CACNA1A | ENST00000637927.1 | c.6462C>T | p.His2154His | synonymous_variant | Exon 45 of 47 | 5 | ENSP00000489715.1 | |||
CACNA1A | ENST00000635895.1 | c.6459C>T | p.His2153His | synonymous_variant | Exon 45 of 47 | 5 | ENSP00000490323.1 | |||
CACNA1A | ENST00000638009.2 | c.6459C>T | p.His2153His | synonymous_variant | Exon 45 of 47 | 1 | ENSP00000489913.1 | |||
CACNA1A | ENST00000637276.1 | c.6423C>T | p.His2141His | synonymous_variant | Exon 44 of 46 | 5 | ENSP00000489777.1 | |||
CACNA1A | ENST00000636768.1 | n.*722C>T | non_coding_transcript_exon_variant | Exon 9 of 10 | 5 | ENSP00000490190.2 | ||||
CACNA1A | ENST00000636768.1 | n.*722C>T | 3_prime_UTR_variant | Exon 9 of 10 | 5 | ENSP00000490190.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000183 AC: 1AN: 54576Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 27814
GnomAD4 exome AF: 8.01e-7 AC: 1AN: 1248358Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 603510
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at