rs10238136
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000348035.9(RAC1):c.36-3497A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0748 in 151,342 control chromosomes in the GnomAD database, including 753 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.075 ( 753 hom., cov: 31)
Consequence
RAC1
ENST00000348035.9 intron
ENST00000348035.9 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.07
Genes affected
RAC1 (HGNC:9801): (Rac family small GTPase 1) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.168 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAC1 | NM_006908.5 | c.36-3497A>T | intron_variant | ENST00000348035.9 | NP_008839.2 | |||
RAC1 | NM_018890.4 | c.36-3497A>T | intron_variant | NP_061485.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAC1 | ENST00000348035.9 | c.36-3497A>T | intron_variant | 1 | NM_006908.5 | ENSP00000258737 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0748 AC: 11314AN: 151226Hom.: 751 Cov.: 31
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0748 AC: 11324AN: 151342Hom.: 753 Cov.: 31 AF XY: 0.0746 AC XY: 5521AN XY: 74042
GnomAD4 genome
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31
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306
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3476
ClinVar
Not reported inComputational scores
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Name
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at