NM_014002.4:c.631T>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014002.4(IKBKE):c.631T>A(p.Leu211Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000142 in 1,614,110 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014002.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IKBKE | ENST00000581977.7 | c.631T>A | p.Leu211Met | missense_variant | Exon 7 of 22 | 1 | NM_014002.4 | ENSP00000464030.1 | ||
IKBKE | ENST00000578328.6 | c.631T>A | p.Leu211Met | missense_variant | Exon 7 of 21 | 1 | ENSP00000473833.1 | |||
IKBKE | ENST00000584998.5 | c.376T>A | p.Leu126Met | missense_variant | Exon 6 of 21 | 1 | ENSP00000462396.1 | |||
IKBKE | ENST00000605818.5 | n.976T>A | non_coding_transcript_exon_variant | Exon 7 of 8 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152230Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251472Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135914
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461880Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727246
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152230Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.631T>A (p.L211M) alteration is located in exon 7 (coding exon 5) of the IKBKE gene. This alteration results from a T to A substitution at nucleotide position 631, causing the leucine (L) at amino acid position 211 to be replaced by a methionine (M). 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