15-74839331-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001099436.4(ULK3):c.895G>T(p.Asp299Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000016 in 1,567,298 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001099436.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152190Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000148 AC: 21AN: 1415108Hom.: 0 Cov.: 37 AF XY: 0.0000143 AC XY: 10AN XY: 699382
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.895G>T (p.D299Y) alteration is located in exon 8 (coding exon 8) of the ULK3 gene. This alteration results from a G to T substitution at nucleotide position 895, causing the aspartic acid (D) at amino acid position 299 to be replaced by a tyrosine (Y). 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