17-82032981-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 6P and 4B. PM1PM2PP3_ModerateBS2
The NM_005052.3(RAC3):c.260C>T(p.Pro87Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,272 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005052.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAC3 | ENST00000306897.9 | c.260C>T | p.Pro87Leu | missense_variant | Exon 4 of 6 | 1 | NM_005052.3 | ENSP00000304283.4 | ||
RAC3 | ENST00000580965.5 | c.128C>T | p.Pro43Leu | missense_variant | Exon 3 of 5 | 2 | ENSP00000463590.1 | |||
RAC3 | ENST00000584341.1 | c.128C>T | p.Pro43Leu | missense_variant | Exon 3 of 5 | 5 | ENSP00000462421.1 | |||
RAC3 | ENST00000585014.1 | n.104C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250698Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135804
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461272Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726918
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.260C>T (p.P87L) alteration is located in exon 4 (coding exon 4) of the RAC3 gene. This alteration results from a C to T substitution at nucleotide position 260, causing the proline (P) at amino acid position 87 to be replaced by a leucine (L). 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