chr17-19796123-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014683.4(ULK2):c.1969G>A(p.Glu657Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000236 in 1,613,336 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014683.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ULK2 | NM_014683.4 | c.1969G>A | p.Glu657Lys | missense_variant | 19/27 | ENST00000395544.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ULK2 | ENST00000395544.9 | c.1969G>A | p.Glu657Lys | missense_variant | 19/27 | 1 | NM_014683.4 | P1 | |
ULK2 | ENST00000361658.6 | c.1969G>A | p.Glu657Lys | missense_variant | 19/28 | 1 | P1 | ||
ULK2 | ENST00000575432.1 | c.7G>A | p.Glu3Lys | missense_variant | 1/5 | 3 | |||
ULK2 | ENST00000571137.1 | n.167G>A | non_coding_transcript_exon_variant | 1/4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000560 AC: 14AN: 250220Hom.: 0 AF XY: 0.0000740 AC XY: 10AN XY: 135224
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461030Hom.: 1 Cov.: 36 AF XY: 0.0000344 AC XY: 25AN XY: 726796
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 27, 2022 | The c.1969G>A (p.E657K) alteration is located in exon 19 (coding exon 19) of the ULK2 gene. This alteration results from a G to A substitution at nucleotide position 1969, causing the glutamic acid (E) at amino acid position 657 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