rs1717003
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_017886.4(ULK4):c.1577+10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.689 in 152,060 control chromosomes in the GnomAD database, including 39,433 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_017886.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ULK4 | NM_017886.4 | c.1577+10G>A | intron_variant | Intron 16 of 36 | ENST00000301831.9 | NP_060356.2 | ||
ULK4 | NM_001322500.2 | c.1577+10G>A | intron_variant | Intron 16 of 35 | NP_001309429.1 | |||
ULK4 | NM_001322501.2 | c.671+10G>A | intron_variant | Intron 15 of 35 | NP_001309430.1 | |||
ULK4 | NR_136342.2 | n.1643+10G>A | intron_variant | Intron 15 of 34 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ULK4 | ENST00000301831.9 | c.1577+10G>A | intron_variant | Intron 16 of 36 | 2 | NM_017886.4 | ENSP00000301831.4 | |||
ULK4 | ENST00000420927.5 | c.1577+10G>A | intron_variant | Intron 16 of 17 | 1 | ENSP00000412187.1 |
Frequencies
GnomAD3 genomes AF: 0.689 AC: 104670AN: 151940Hom.: 39415 Cov.: 32
GnomAD3 exomes AF: 0.769 AC: 101864AN: 132404Hom.: 40349 AF XY: 0.776 AC XY: 56396AN XY: 72702
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.815 AC: 1025270AN: 1258108Hom.: 422173 Cov.: 18 AF XY: 0.816 AC XY: 510323AN XY: 625068
GnomAD4 genome AF: 0.689 AC: 104705AN: 152060Hom.: 39433 Cov.: 32 AF XY: 0.690 AC XY: 51280AN XY: 74336
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at