19-53982715-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031895.6(CACNG8):c.1144G>A(p.Val382Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000171 in 1,168,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031895.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNG8 | NM_031895.6 | c.1144G>A | p.Val382Ile | missense_variant | 4/4 | ENST00000270458.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNG8 | ENST00000270458.4 | c.1144G>A | p.Val382Ile | missense_variant | 4/4 | 1 | NM_031895.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000671 AC: 1AN: 149136Hom.: 0 Cov.: 32
GnomAD4 exome AF: 9.81e-7 AC: 1AN: 1019472Hom.: 0 Cov.: 32 AF XY: 0.00000206 AC XY: 1AN XY: 486400
GnomAD4 genome ? AF: 0.00000671 AC: 1AN: 149136Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 1AN XY: 72672
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 23, 2022 | The c.1144G>A (p.V382I) alteration is located in exon 4 (coding exon 4) of the CACNG8 gene. This alteration results from a G to A substitution at nucleotide position 1144, causing the valine (V) at amino acid position 382 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at