{{Rsnum
|rsid=2107732
|Gene=CCM2
|Chromosome=7
|position=45038379
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.04683
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CCM2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 23.2 | 76.8
| HCB | 0.0 | 2.9 | 97.1
| JPT | 0.0 | 2.7 | 97.3
| YRI | 0.0 | 0.7 | 99.3
| ASW | 0.0 | 3.6 | 96.4
| CHB | 0.0 | 2.9 | 97.1
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 3.0 | 97.0
| LWK | 0.0 | 1.8 | 98.2
| MEX | 1.7 | 19.0 | 79.3
| MKK | 0.0 | 0.6 | 99.4
| TSI | 0.0 | 23.5 | 76.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=2107732
|allele=A
|frequency=0.083
|uid=1103652561181
|type=heterozygous_SNP
|hugo=CCM2
|ensembl gene=ENSG00000136280
|ensembl transcript=ENST00000258781
|sift=TOLERATED
|disease=Defects in CCM2 are the cause of cerebral cavernous malformations 2 (CCM2) (MIM:603284). Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and usually present clinically during the 3rd to 5th decade of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. Familial forms of CCMs are inherited in an autosomal dominant fashion.
}}

{{GET Evidence
|gene=CCM2
|aa_change=Val53Ile
|aa_change_short=V53I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2107732
|overall_frequency_n=722
|overall_frequency_d=10758
|overall_frequency=0.0671128
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.007
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}