chr3-41954644-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017886.4(ULK4):c.116A>T(p.Lys39Ile) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K39R) has been classified as Likely benign.
Frequency
Consequence
NM_017886.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ULK4 | NM_017886.4 | c.116A>T | p.Lys39Ile | missense_variant | Exon 2 of 37 | ENST00000301831.9 | NP_060356.2 | |
ULK4 | NM_001322500.2 | c.116A>T | p.Lys39Ile | missense_variant | Exon 2 of 36 | NP_001309429.1 | ||
ULK4 | NM_001322501.2 | c.-715A>T | 5_prime_UTR_variant | Exon 2 of 36 | NP_001309430.1 | |||
ULK4 | NR_136342.2 | n.252A>T | non_coding_transcript_exon_variant | Exon 2 of 35 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 48
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.