chr12-131895101-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003565.4(ULK1):c.100C>T(p.Arg34Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000237 in 1,560,250 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003565.4 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 |
---|---|---|---|---|---|---|---|---|
ULK1 | NM_003565.4 | c.100C>T | p.Arg34Cys | missense_variant | Exon 1 of 28 | ENST00000321867.6 | NP_003556.2 | |
ULK1 | XM_011538798.4 | c.100C>T | p.Arg34Cys | missense_variant | Exon 1 of 28 | XP_011537100.1 | ||
ULK1 | XM_011538799.3 | c.100C>T | p.Arg34Cys | missense_variant | Exon 1 of 28 | XP_011537101.1 | ||
ULK1 | XR_007063134.1 | n.480C>T | non_coding_transcript_exon_variant | Exon 1 of 23 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151148Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000939 AC: 15AN: 159674Hom.: 0 AF XY: 0.000112 AC XY: 10AN XY: 89394
GnomAD4 exome AF: 0.0000248 AC: 35AN: 1408992Hom.: 0 Cov.: 32 AF XY: 0.0000386 AC XY: 27AN XY: 698860
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151258Hom.: 0 Cov.: 26 AF XY: 0.0000135 AC XY: 1AN XY: 73910
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.100C>T (p.R34C) alteration is located in exon 1 (coding exon 1) of the ULK1 gene. This alteration results from a C to T substitution at nucleotide position 100, causing the arginine (R) at amino acid position 34 to be replaced by a cysteine (C). 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