rs1716687
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_017886.4(ULK4):c.1599A>T(p.Val533=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V533V) has been classified as Benign.
Frequency
Consequence
NM_017886.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ULK4 | NM_017886.4 | c.1599A>T | p.Val533= | synonymous_variant | 17/37 | ENST00000301831.9 | |
ULK4 | NM_001322500.2 | c.1599A>T | p.Val533= | synonymous_variant | 17/36 | ||
ULK4 | NM_001322501.2 | c.693A>T | p.Val231= | synonymous_variant | 16/36 | ||
ULK4 | NR_136342.2 | n.1665A>T | non_coding_transcript_exon_variant | 16/35 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ULK4 | ENST00000301831.9 | c.1599A>T | p.Val533= | synonymous_variant | 17/37 | 2 | NM_017886.4 | P1 | |
ULK4 | ENST00000420927.5 | c.1599A>T | p.Val533= | synonymous_variant | 17/18 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459082Hom.: 0 Cov.: 43 AF XY: 0.00000138 AC XY: 1AN XY: 726058
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at