chr1-153932353-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_014856.3(DENND4B):c.3847G>A(p.Glu1283Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000103 in 1,461,564 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014856.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 248438Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134840
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461564Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727052
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3847G>A (p.E1283K) alteration is located in exon 24 (coding exon 23) of the DENND4B gene. This alteration results from a G to A substitution at nucleotide position 3847, causing the glutamic acid (E) at amino acid position 1283 to be replaced by a lysine (K). 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