chr2-154855623-A-AGT

Variant names:

• chr2-154855623-A-AGT
• rs5835552
• NM_002239.4:c.*310_*311insGT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_002239.4(KCNJ3):​c.*310_*311insGT variant causes a 3 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: not found (cov: 19)
• Consequence: KCNJ3 NM_002239.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.87
• Publications: 0 publications found

Genes affected

KCNJ3 (HGNC:6264): (potassium inwardly rectifying channel subfamily J member 3) Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
KCNJ3	NM_002239.4	c.*310_*311insGT		3_prime_UTR_variant	Exon 3 of 3	ENST00000295101.3	NP_002230.1
KCNJ3	NM_001260508.2	c.*891_*892insGT		3_prime_UTR_variant	Exon 2 of 2		NP_001247437.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
KCNJ3	ENST00000295101.3	c.*310_*311insGT		3_prime_UTR_variant	Exon 3 of 3	1	NM_002239.4	ENSP00000295101.2
KCNJ3	ENST00000544049.2	c.*891_*892insGT		3_prime_UTR_variant	Exon 2 of 2	1		ENSP00000438410.1
KCNJ3	ENST00000651198.1	c.*310_*311insGT		3_prime_UTR_variant	Exon 4 of 4			ENSP00000498639.1

Frequencies

GnomAD3 genomes Cov.: 19

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 19

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		2.9

Splicing

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

Other links and lift over

dbSNP: rs5835552; hg19: chr2-155712135;