rs763839433
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000722.4(CACNA2D1):c.1899G>T(p.Ser633=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S633S) has been classified as Likely benign.
Frequency
Consequence
NM_000722.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA2D1 | NM_000722.4 | c.1899G>T | p.Ser633= | synonymous_variant | 24/39 | ENST00000356860.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA2D1 | ENST00000356860.8 | c.1899G>T | p.Ser633= | synonymous_variant | 24/39 | 1 | NM_000722.4 | ||
CACNA2D1 | ENST00000443883.2 | c.1935G>T | p.Ser645= | synonymous_variant | 24/39 | 5 | P1 | ||
CACNA2D1 | ENST00000705962.1 | c.1779G>T | p.Ser593= | synonymous_variant | 23/38 | ||||
CACNA2D1 | ENST00000705961.1 | c.1668G>T | p.Ser556= | synonymous_variant | 22/37 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151826Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 26
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000658 AC: 1AN: 151944Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74252
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.