chr22-37226727-G-A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_002872.5(RAC2):c.525C>T(p.Ala175=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000036 in 1,613,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A175A) has been classified as Likely benign.
Frequency
Consequence
NM_002872.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAC2 | NM_002872.5 | c.525C>T | p.Ala175= | synonymous_variant | 6/7 | ENST00000249071.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAC2 | ENST00000249071.11 | c.525C>T | p.Ala175= | synonymous_variant | 6/7 | 1 | NM_002872.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152040Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 250108Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135492
GnomAD4 exome AF: 0.0000370 AC: 54AN: 1460994Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 28AN XY: 726820
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74384
ClinVar
Submissions by phenotype
Neutrophil immunodeficiency syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 28, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at