rs199930
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001205293.3(CACNA1E):c.5073C>G(p.Asn1691Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N1691S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001205293.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CACNA1E | NM_001205293.3 | c.5073C>G | p.Asn1691Lys | missense_variant | 37/48 | ENST00000367573.7 | NP_001192222.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1E | ENST00000367573.7 | c.5073C>G | p.Asn1691Lys | missense_variant | 37/48 | 1 | NM_001205293.3 | ENSP00000356545.2 | ||
CACNA1E | ENST00000360108.7 | c.5016C>G | p.Asn1672Lys | missense_variant | 36/47 | 5 | ENSP00000353222.3 | |||
CACNA1E | ENST00000367570.6 | c.5073C>G | p.Asn1691Lys | missense_variant | 37/47 | 1 | ENSP00000356542.1 | |||
CACNA1E | ENST00000621791.4 | c.5016C>G | p.Asn1672Lys | missense_variant | 36/46 | 1 | ENSP00000481619.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at