7-116500297-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001233.5(CAV2):c.188C>A(p.Thr63Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000123 in 1,461,862 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAV2 | NM_001233.5 | c.188C>A | p.Thr63Lys | missense_variant | Exon 2 of 3 | ENST00000222693.5 | NP_001224.1 | |
CAV2 | NM_001206747.2 | c.149C>A | p.Thr50Lys | missense_variant | Exon 2 of 3 | NP_001193676.1 | ||
CAV2 | NM_001206748.2 | c.-62C>A | 5_prime_UTR_variant | Exon 1 of 2 | NP_001193677.1 | |||
CAV2 | NM_198212.3 | c.150+366C>A | intron_variant | Intron 1 of 1 | NP_937855.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461862Hom.: 0 Cov.: 38 AF XY: 0.0000110 AC XY: 8AN XY: 727234
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.188C>A (p.T63K) alteration is located in exon 2 (coding exon 2) of the CAV2 gene. This alteration results from a C to A substitution at nucleotide position 188, causing the threonine (T) at amino acid position 63 to be replaced by a lysine (K). 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