chr11-95025587-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001161630.1(KDM4E):c.30C>T(p.Asn10Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000028 in 1,535,092 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001161630.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000284 AC: 4AN: 140950Hom.: 0 AF XY: 0.0000133 AC XY: 1AN XY: 75256
GnomAD4 exome AF: 0.0000145 AC: 20AN: 1382856Hom.: 0 Cov.: 34 AF XY: 0.00000733 AC XY: 5AN XY: 681978
GnomAD4 genome AF: 0.000151 AC: 23AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at