3-41398207-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017886.4(ULK4):c.3550G>A(p.Val1184Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,612,580 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_017886.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151902Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000242 AC: 6AN: 248392Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134744
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1460678Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 726618
GnomAD4 genome AF: 0.0000790 AC: 12AN: 151902Hom.: 0 Cov.: 32 AF XY: 0.0000944 AC XY: 7AN XY: 74174
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3550G>A (p.V1184I) alteration is located in exon 35 (coding exon 34) of the ULK4 gene. This alteration results from a G to A substitution at nucleotide position 3550, causing the valine (V) at amino acid position 1184 to be replaced by an isoleucine (I). 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