2-154699025-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002239.4(KCNJ3):c.250C>T(p.Leu84Phe) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002239.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNJ3 | NM_002239.4 | c.250C>T | p.Leu84Phe | missense_variant | Exon 1 of 3 | ENST00000295101.3 | NP_002230.1 | |
KCNJ3 | NM_001260509.2 | c.250C>T | p.Leu84Phe | missense_variant | Exon 1 of 2 | NP_001247438.1 | ||
KCNJ3 | NM_001260510.2 | c.250C>T | p.Leu84Phe | missense_variant | Exon 1 of 1 | NP_001247439.1 | ||
KCNJ3 | NM_001260508.2 | c.250C>T | p.Leu84Phe | missense_variant | Exon 1 of 2 | NP_001247437.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNJ3 | ENST00000295101.3 | c.250C>T | p.Leu84Phe | missense_variant | Exon 1 of 3 | 1 | NM_002239.4 | ENSP00000295101.2 | ||
KCNJ3 | ENST00000544049.2 | c.250C>T | p.Leu84Phe | missense_variant | Exon 1 of 2 | 1 | ENSP00000438410.1 | |||
KCNJ3 | ENST00000651198.1 | c.-42-246C>T | intron_variant | Intron 1 of 3 | ENSP00000498639.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.250C>T (p.L84F) alteration is located in exon 1 (coding exon 1) of the KCNJ3 gene. This alteration results from a C to T substitution at nucleotide position 250, causing the leucine (L) at amino acid position 84 to be replaced by a phenylalanine (F). 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