ARMC5 Chromosome 16

Armadillo repeat containing 5
29 variants 29 Health Risk

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What This Gene Does
This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
"Armadillo repeat containing|BTB domain containing"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000140691
Associated Conditions (6)
ACTH-independent macronodular adrenal hyperplasia 2
ARMC5-related disorder
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
Cushing syndrome due to macronodular adrenal hyperplasia
Macronodular adrenal hyperplasia
Key Variants
RS1385397608
Conflicting classifications of pathogenicity
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
Health Risk
RS200655247
Conflicting classifications of pathogenicity
ARMC5-related disorder, Hereditary cancer-predisposing syndrome, ARMC5-related disorder
Health Risk
RS200951744
Conflicting classifications of pathogenicity
ACTH-independent macronodular adrenal hyperplasia 2, ARMC5-related disorder, ACTH-independent macronodular adrenal hyperplasia 2
Health Risk
RS202069202
Conflicting classifications of pathogenicity
ARMC5-related disorder, Inborn genetic diseases, ARMC5-related disorder
Health Risk
RS374639681
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374754128
Conflicting classifications of pathogenicity
ARMC5-related disorder, Inborn genetic diseases, ARMC5-related disorder
Health Risk
RS1596605496
Likely pathogenic
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
Health Risk
RS181967284
Likely pathogenic
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
Health Risk
RS2082338123
Likely pathogenic
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
Health Risk
RS2142575218
Likely pathogenic
Cushing syndrome due to macronodular adrenal hyperplasia, Cushing syndrome due to macronodular adrenal hyperplasia
Health Risk
RS2544859360
Likely pathogenic
ARMC5-related disorder, ARMC5-related disorder
Health Risk
RS35461188
Likely pathogenic
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
Health Risk
All Variants (29)
RSID Category Clinical Significance Conditions
RS1385397608 Health Risk Conflicting classifications of pathogenicity ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS200655247 Health Risk Conflicting classifications of pathogenicity ARMC5-related disorder, Hereditary cancer-predisposing syndrome, ARMC5-related disorder
RS200951744 Health Risk Conflicting classifications of pathogenicity ACTH-independent macronodular adrenal hyperplasia 2, ARMC5-related disorder, ACTH-independent macronodular adrenal hyperplasia 2
RS202069202 Health Risk Conflicting classifications of pathogenicity ARMC5-related disorder, Inborn genetic diseases, ARMC5-related disorder
RS374639681 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374754128 Health Risk Conflicting classifications of pathogenicity ARMC5-related disorder, Inborn genetic diseases, ARMC5-related disorder
RS1596605496 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS181967284 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2082338123 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142575218 Health Risk Likely pathogenic Cushing syndrome due to macronodular adrenal hyperplasia, Cushing syndrome due to macronodular adrenal hyperplasia
RS2544859360 Health Risk Likely pathogenic ARMC5-related disorder, ARMC5-related disorder
RS35461188 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS769017434 Health Risk Likely pathogenic Macronodular adrenal hyperplasia, Macronodular adrenal hyperplasia
RS1351158680 Health Risk Pathogenic ARMC5-related disorder, ARMC5-related disorder
RS1386368908 Health Risk Pathogenic ARMC5-related disorder, ACTH-independent macronodular adrenal hyperplasia 2, ARMC5-related disorder
RS2082307406 Health Risk Pathogenic —
RS2142561742 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142562239 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142578942 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142580488 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2544851883 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2544856541 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS369721476 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS587777659 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS587777660 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS587777661 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS587777663 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS778422149 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS951869246 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
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