rs2239774
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_002872.5(RAC2):c.81C>G(p.Ala27Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.147 in 1,613,244 control chromosomes in the GnomAD database, including 18,204 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002872.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAC2 | NM_002872.5 | c.81C>G | p.Ala27Ala | synonymous_variant | Exon 2 of 7 | ENST00000249071.11 | NP_002863.1 | |
RAC2 | XM_006724286.4 | c.81C>G | p.Ala27Ala | synonymous_variant | Exon 2 of 6 | XP_006724349.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.158 AC: 24055AN: 152100Hom.: 2018 Cov.: 33
GnomAD3 exomes AF: 0.153 AC: 38543AN: 251480Hom.: 3230 AF XY: 0.157 AC XY: 21326AN XY: 135914
GnomAD4 exome AF: 0.146 AC: 212904AN: 1461022Hom.: 16179 Cov.: 33 AF XY: 0.147 AC XY: 106966AN XY: 726864
GnomAD4 genome AF: 0.158 AC: 24081AN: 152222Hom.: 2025 Cov.: 33 AF XY: 0.159 AC XY: 11820AN XY: 74428
ClinVar
Submissions by phenotype
Neutrophil immunodeficiency syndrome Benign:2
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not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Benign:1
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Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at