rs200954535

Variant names:

• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-C
• rs200954535
• NM_001006630.2:c.-124-41384_-124-41358delGTTGTTGTTGTTGTTGTTGTTGTTGTT

Your query was ambiguous. Multiple possible variants found:

• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-C
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGT
• chr7-136950783-CTGTTGTTGTTGTTGTTGTTGTTGTTGT-CTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001006630.2(CHRM2):​c.-124-41384_-124-41358delGTTGTTGTTGTTGTTGTTGTTGTTGTT variant causes a intron 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: 16)
• Consequence: CHRM2 NM_001006630.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.190

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]

ENSG00000234352 (HGNC:):

ACMG classification

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.-124-41384_-124-41358delGTTGTTGTTGTTGTTGTTGTTGTTGTT		intron_variant	Intron 2 of 3	ENST00000680005.1	NP_001006631.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CHRM2	ENST00000680005.1	c.-124-41403_-124-41377delTGTTGTTGTTGTTGTTGTTGTTGTTGT		intron_variant	Intron 2 of 3		NM_001006630.2	ENSP00000505686.1

Frequencies

GnomAD3 genomes AF: 0.00000668 AC: 1 AN: 149678 Hom.: 0 Cov.: 16

Gnomad AFR AF: 0.0000245

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.00000668 AC: 1 AN: 149678 Hom.: 0 Cov.: 16 AF XY: 0.0000137 AC XY: 1 AN XY: 72812

Gnomad4 AFR AF: 0.0000245

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs200954535; hg19: chr7-136635530;