7-136868746-GCACACACACACACACA-GCACACACACACACACACACACACACACACA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001006630.2(CHRM2):c.-514_-501dupCACACACACACACA variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000067 ( 0 hom., cov: 0)
Consequence
CHRM2
NM_001006630.2 5_prime_UTR
NM_001006630.2 5_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.214
Genes affected
CHRM2 (HGNC:1951): (cholinergic receptor muscarinic 2) The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHRM2 | NM_001006630.2 | c.-514_-501dupCACACACACACACA | 5_prime_UTR_variant | Exon 1 of 4 | ENST00000680005.1 | NP_001006631.1 | ||
CHRM2 | NM_001006627.3 | c.-436_-423dupCACACACACACACA | 5_prime_UTR_variant | Exon 1 of 3 | NP_001006628.1 | |||
CHRM2 | NM_001378972.1 | c.-626_-613dupCACACACACACACA | 5_prime_UTR_variant | Exon 1 of 5 | NP_001365901.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000670 AC: 1AN: 149280Hom.: 0 Cov.: 0
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GnomAD4 genome AF: 0.00000670 AC: 1AN: 149280Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 72694
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at