17-82032381-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005052.3(RAC3):c.36-6C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,612,256 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005052.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAC3 | ENST00000306897.9 | c.36-6C>T | splice_region_variant, intron_variant | Intron 1 of 5 | 1 | NM_005052.3 | ENSP00000304283.4 | |||
RAC3 | ENST00000580965.5 | c.-103C>T | 5_prime_UTR_variant | Exon 1 of 5 | 2 | ENSP00000463590.1 | ||||
RAC3 | ENST00000584341.1 | c.-143C>T | 5_prime_UTR_variant | Exon 1 of 5 | 5 | ENSP00000462421.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152090Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460166Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 4AN XY: 726374
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152090Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74284
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at