rs148442391
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_006030.4(CACNA2D2):c.2257G>T(p.Ala753Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,778 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A753T) has been classified as Uncertain significance.
Frequency
Consequence
NM_006030.4 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA2D2 | NM_006030.4 | c.2257G>T | p.Ala753Ser | missense_variant | 26/38 | ENST00000424201.7 | |
LOC101928965 | NR_183064.1 | n.970-114C>A | intron_variant, non_coding_transcript_variant | ||||
LOC127898564 | NR_183066.1 | n.870-114C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA2D2 | ENST00000424201.7 | c.2257G>T | p.Ala753Ser | missense_variant | 26/38 | 1 | NM_006030.4 | P4 | |
ENST00000607121.5 | n.603-114C>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249300Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135098
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459778Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 725822
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at