chr11-95025886-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001161630.1(KDM4E):c.329C>T(p.Pro110Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000484 in 1,589,862 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001161630.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000729 AC: 111AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000362 AC: 76AN: 209970Hom.: 0 AF XY: 0.000339 AC XY: 39AN XY: 115096
GnomAD4 exome AF: 0.000458 AC: 658AN: 1437578Hom.: 0 Cov.: 35 AF XY: 0.000487 AC XY: 348AN XY: 714620
GnomAD4 genome AF: 0.000729 AC: 111AN: 152284Hom.: 0 Cov.: 33 AF XY: 0.000698 AC XY: 52AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.329C>T (p.P110L) alteration is located in exon 1 (coding exon 1) of the KDM4E gene. This alteration results from a C to T substitution at nucleotide position 329, causing the proline (P) at amino acid position 110 to be replaced by a leucine (L). 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