ARMC5

armadillo repeat containing 5

Summary

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]

Known Variants174 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs117947985	16:31,469,967	G/C	coding sequence variant	—
rs1473909978	16:31,470,643	A/C	—	likely benign
rs147875284	16:31,470,646	A/C	—	likely benign
rs761201073	16:31,470,661	G/A	—	uncertain significance
rs1200822585	16:31,470,862	C/T	—	uncertain significance
rs151069962	16:31,470,886	T/A	—	benign
rs771181319	16:31,470,902	C/T	—	likely benign
rs2544850725	16:31,470,903	G/A	—	uncertain significance
rs375181224	16:31,470,908	G/A	—	benign
rs747250546	16:31,470,910	C/T	—	uncertain significance
rs377589285	16:31,470,915	G/A	—	uncertain significance
rs1433843572	16:31,470,934	A/G	—	likely benign
rs200309618	16:31,470,942	C/T	—	uncertain significance
rs573009657	16:31,470,953	C/G	—	uncertain significance
rs539998802	16:31,470,966	A/G	—	benign
rs754286092	16:31,471,009	C/T	—	uncertain significance
rs772390098	16:31,471,011	G/C	—	uncertain significance
rs181081811	16:31,471,019	C/T	—	benign
rs1008632310	16:31,471,022	G/A	—	likely benign
rs2544851228	16:31,471,038	G/A	—	uncertain significance
rs1369438528	16:31,471,047	C/T	—	uncertain significance
rs1452172317	16:31,471,082	A/G	—	likely benign
rs1197883705	16:31,471,084	C/T	—	uncertain significance
rs587777660	16:31,471,101	C/T	stop gained	pathogenic
rs750844063	16:31,471,102	A/T	—	likely benign
rs769890229	16:31,471,127	G/C	—	likely benign
rs562540127	16:31,471,133	C/G	—	likely benign
rs1360206140	16:31,471,134	G/A	—	uncertain significance
rs372292806	16:31,471,139	G/T	—	benign
rs760150629	16:31,471,153	C/T	—	uncertain significance
rs201768837	16:31,471,173	G/A	—	benign
rs777675096	16:31,471,237	T/G	—	uncertain significance
rs200910451	16:31,471,277	G/T	—	likely benign
rs2544852232	16:31,471,278	T/A	—	uncertain significance
rs201280100	16:31,471,283	A/G	—	likely benign
rs374754128	16:31,471,284	A/G	—	conflicting classifications of pathogenicity
rs114930262	16:31,471,311	C/T	—	likely benign
rs267604526	16:31,471,314	C/T	—	uncertain significance
rs1164790284	16:31,473,246	C/T	—	uncertain significance
rs35923277	16:31,473,275	G/A	—	benign
rs201474630	16:31,473,280	G/A	—	likely benign
rs2082307406	16:31,473,284	C/T	—	pathogenic
rs368904562	16:31,473,304	G/A	—	likely benign
rs2544854840	16:31,473,350	G/C	—	uncertain significance
rs1045034837	16:31,473,474	G/C	—	uncertain significance
rs371608784	16:31,473,484	G/T	—	uncertain significance
rs775557061	16:31,473,489	C/T	—	likely benign
rs750013429	16:31,473,513	C/T	—	likely benign
rs533167546	16:31,473,591	G/T	—	likely benign
rs114871627	16:31,473,597	C/T	—	likely benign
rs926737302	16:31,473,616	C/T	—	uncertain significance
rs2082310802	16:31,473,621	T/A	—	uncertain significance
rs1343410459	16:31,473,652	C/T	—	uncertain significance
rs377085139	16:31,473,665	G/C	—	uncertain significance
rs369721476	16:31,473,667	C/T	stop gained	pathogenic
rs373679116	16:31,473,726	C/T	—	likely benign
rs377221865	16:31,473,777	G/C	—	benign
rs558131508	16:31,473,778	A/G	—	likely benign
rs781294890	16:31,473,783	C/T	—	likely benign
rs757764618	16:31,473,830	C/T	—	uncertain significance
rs35461188	16:31,473,836	G/A	—	likely pathogenic
rs190300567	16:31,473,837	C/T	—	benign
rs1188596696	16:31,473,841	G/A	—	uncertain significance
rs539440145	16:31,473,868	C/T	—	uncertain significance
rs763409959	16:31,473,872	G/A	—	uncertain significance
rs2544856175	16:31,473,880	A/G	—	uncertain significance
rs79238971	16:31,473,907	C/T	—	benign
rs374639681	16:31,473,937	C/T	—	conflicting classifications of pathogenicity
rs1385397608	16:31,473,952	C/T	—	conflicting classifications of pathogenicity
rs1386368908	16:31,473,958	C/T	—	pathogenic
rs587777663	16:31,473,962	T/C	missense variant	pathogenic
rs1163281224	16:31,473,965	G/A	—	uncertain significance
rs551854881	16:31,474,004	G/A	—	uncertain significance
rs373906994	16:31,474,012	C/T	—	uncertain significance
rs371525408	16:31,474,013	G/A	—	likely benign
rs201436376	16:31,474,020	C/T	—	benign
rs767757331	16:31,474,021	G/T	—	uncertain significance
rs141923065	16:31,474,091	A/G	missense variant	likely benign
rs955713891	16:31,474,095	T/C	—	likely benign
rs374917944	16:31,474,179	G/T	—	uncertain significance
rs182524829	16:31,474,185	T/C	—	benign
rs200655247	16:31,475,712	C/A	—	conflicting classifications of pathogenicity
rs201976379	16:31,475,790	G/A	—	likely benign
rs1025162367	16:31,475,800	A/C	—	uncertain significance
rs758990293	16:31,475,817	C/T	—	likely benign
rs376497413	16:31,475,823	G/A	—	likely benign
rs974227649	16:31,475,830	A/C	—	uncertain significance
rs759389618	16:31,475,834	C/T	—	uncertain significance
rs767370525	16:31,475,835	G/A	—	likely benign
rs202069202	16:31,475,839	C/T	—	conflicting classifications of pathogenicity
rs536986858	16:31,475,843	C/T	—	uncertain significance
rs2544859363	16:31,475,846	C/T	—	uncertain significance
rs368868060	16:31,475,847	A/G	—	likely benign
rs200054015	16:31,475,849	G/A	—	uncertain significance
rs748493259	16:31,475,852	C/T	—	uncertain significance
rs200852513	16:31,475,858	G/T	—	uncertain significance
rs115663676	16:31,475,859	C/T	—	benign
rs1034459980	16:31,475,867	G/C	—	uncertain significance
rs565385825	16:31,475,907	C/T	—	likely benign
rs749423079	16:31,475,919	C/G	—	likely benign

Showing 100 of 174 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.