rs964032175
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003591.4(CUL2):c.2216A>T(p.Asp739Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,390 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. D739G) has been classified as Uncertain significance.
Frequency
Consequence
NM_003591.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL2 | NM_003591.4 | c.2216A>T | p.Asp739Val | missense_variant | Exon 21 of 21 | ENST00000374749.8 | NP_003582.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247592Hom.: 0 AF XY: 0.00000746 AC XY: 1AN XY: 134016
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458390Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725554
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at