7-116506102-T-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001233.5(CAV2):āc.470T>Cā(p.Leu157Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,804 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 (ā ).
Frequency
Consequence
NM_001233.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAV2 | NM_001233.5 | c.470T>C | p.Leu157Pro | missense_variant | Exon 3 of 3 | ENST00000222693.5 | NP_001224.1 | |
CAV2 | NM_001206747.2 | c.431T>C | p.Leu144Pro | missense_variant | Exon 3 of 3 | NP_001193676.1 | ||
CAV2 | NM_001206748.2 | c.221T>C | p.Leu74Pro | missense_variant | Exon 2 of 2 | NP_001193677.1 | ||
CAV2 | NM_198212.3 | c.282T>C | p.Pro94Pro | synonymous_variant | Exon 2 of 2 | NP_937855.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461804Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727212
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.470T>C (p.L157P) alteration is located in exon 3 (coding exon 3) of the CAV2 gene. This alteration results from a T to C substitution at nucleotide position 470, causing the leucine (L) at amino acid position 157 to be replaced by a proline (P). 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