10-35049676-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_003591.4(CUL2):c.506+7G>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00807 in 1,607,258 control chromosomes in the GnomAD database, including 93 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_003591.4 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL2 | NM_003591.4 | c.506+7G>C | splice_region_variant, intron_variant | ENST00000374749.8 | NP_003582.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUL2 | ENST00000374749.8 | c.506+7G>C | splice_region_variant, intron_variant | 1 | NM_003591.4 | ENSP00000363881 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00655 AC: 996AN: 152096Hom.: 8 Cov.: 32
GnomAD3 exomes AF: 0.00691 AC: 1724AN: 249468Hom.: 12 AF XY: 0.00677 AC XY: 912AN XY: 134794
GnomAD4 exome AF: 0.00823 AC: 11979AN: 1455044Hom.: 85 Cov.: 29 AF XY: 0.00803 AC XY: 5812AN XY: 724098
GnomAD4 genome AF: 0.00654 AC: 996AN: 152214Hom.: 8 Cov.: 32 AF XY: 0.00738 AC XY: 549AN XY: 74386
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Apr 10, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at