7-116499900-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001233.5(CAV2):c.119G>A(p.Arg40Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,611,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001233.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAV2 | NM_001233.5 | c.119G>A | p.Arg40Gln | missense_variant | Exon 1 of 3 | ENST00000222693.5 | NP_001224.1 | |
CAV2 | NM_001206747.2 | c.80G>A | p.Arg27Gln | missense_variant | Exon 1 of 3 | NP_001193676.1 | ||
CAV2 | NM_198212.3 | c.119G>A | p.Arg40Gln | missense_variant | Exon 1 of 2 | NP_937855.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151952Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243906Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133150
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459850Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 4AN XY: 726304
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151952Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74238
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.119G>A (p.R40Q) alteration is located in exon 1 (coding exon 1) of the CAV2 gene. This alteration results from a G to A substitution at nucleotide position 119, causing the arginine (R) at amino acid position 40 to be replaced by a glutamine (Q). 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