3-49862362-G-C
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_024046.5(CAMKV):c.27C>G(p.Gly9Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G9G) has been classified as Benign.
Frequency
Consequence
NM_024046.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAMKV | NM_024046.5 | c.27C>G | p.Gly9Gly | synonymous_variant | Exon 2 of 11 | ENST00000477224.6 | NP_076951.2 | |
CAMKV | NM_001320147.2 | c.27C>G | p.Gly9Gly | synonymous_variant | Exon 2 of 12 | NP_001307076.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 46
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at