NM_001233.5:c.10G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001233.5(CAV2):āc.10G>Cā(p.Glu4Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000014 in 1,574,886 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAV2 | NM_001233.5 | c.10G>C | p.Glu4Gln | missense_variant | Exon 1 of 3 | ENST00000222693.5 | NP_001224.1 | |
CAV2 | NM_198212.3 | c.10G>C | p.Glu4Gln | missense_variant | Exon 1 of 2 | NP_937855.1 | ||
CAV2 | NM_001206747.2 | c.-30G>C | 5_prime_UTR_variant | Exon 1 of 3 | NP_001193676.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000270 AC: 5AN: 185310Hom.: 0 AF XY: 0.0000199 AC XY: 2AN XY: 100546
GnomAD4 exome AF: 0.0000148 AC: 21AN: 1422788Hom.: 0 Cov.: 31 AF XY: 0.0000128 AC XY: 9AN XY: 704548
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74272
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.10G>C (p.E4Q) alteration is located in exon 1 (coding exon 1) of the CAV2 gene. This alteration results from a G to C substitution at nucleotide position 10, causing the glutamic acid (E) at amino acid position 4 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