rs193929358
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_ModeratePP5_Moderate
The NM_000525.4(KCNJ11):c.1001G>T(p.Gly334Val) variant causes a missense change involving the alteration of a conserved nucleotide. 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 Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G334D) has been classified as Benign.
Frequency
Consequence
NM_000525.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ11 | NM_000525.4 | c.1001G>T | p.Gly334Val | missense_variant | 1/1 | ENST00000339994.5 | |
KCNJ11 | NM_001166290.2 | c.740G>T | p.Gly247Val | missense_variant | 2/2 | ||
KCNJ11 | NM_001377296.1 | c.740G>T | p.Gly247Val | missense_variant | 3/3 | ||
KCNJ11 | NM_001377297.1 | c.740G>T | p.Gly247Val | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ11 | ENST00000339994.5 | c.1001G>T | p.Gly334Val | missense_variant | 1/1 | NM_000525.4 | P1 | ||
KCNJ11 | ENST00000528731.1 | c.740G>T | p.Gly247Val | missense_variant | 2/2 | 1 | |||
KCNJ11 | ENST00000682350.1 | c.740G>T | p.Gly247Val | missense_variant | 2/2 | ||||
KCNJ11 | ENST00000682764.1 | c.740G>T | p.Gly247Val | missense_variant | 2/3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 67
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Neonatal diabetes mellitus Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Molecular Genetics, Madras Diabetes Research Foundation | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.