ACMG 59 Genes

The American College of Medical Genetics and Genomics (ACMG) has compiled a list of 59 genes, for which specific mutations are known to be causative of disorders with defined phenotypes that are clinically actionable by an accepted intervention. The ACMG recommends that variants detected in any of these genes by a method such as whole exome or whole genome sequencing be reported, as they are of medical relevance and could be used in the future to inform clinical treatment.

The NIGMS Repository has many samples bearing characterized mutations within the genes on this list. These samples serve as a resource to investigators studying these common variants in clinically significant genes.  Please use the table below to browse genes and NIGMS samples of interest.

The NIGMS Repository is seeking to expand their available resources, and we are looking to include in our collections samples that have characterized mutations in the genes in this list. If you or your collaborators would be interested in making biospecimens with mutations in one or more ACMG 59 Genes available to the research community, please contact us at NIGMS@coriell.org.


* indicates that samples are not currently available from the catalog

Disease Phenotype

GeneReviews PMID for Phenotype

Gene and OMIM Number

Available Samples with Characterized Mutation Data

Genetic Variants in 1000 Genomes Project Samples
Hereditary breast and ovarian cancer  20301425 BRCA1
113705
Samples Browse

BRCA2 
600185

Samples Browse
Li-Fraumeni syndrome 20301488 TP53 
191170 
Samples Browse
Peutz-Jeghers syndrome 20301443

STK11 
602216 

Samples Browse
Lynch syndrome 20301390 MLH1 
120436 
Samples Browse
MSH2 
609309 
Samples Browse
MSH6 
600678 
Samples Browse
PMS2 
600259 
Samples*   Browse
Familial adenomatous polyposis 20301519 APC 
611731 
Samples Browse
MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 23035301 MUTYH 
604933 
Samples Browse
Juvenile polyposis 20301642 BMPR1A 
601299 
Samples Browse
SMAD4 
600993 
Samples Browse
Von Hippel–Lindau syndrome 20301636 VHL 
608537 
Samples*   Browse
Multiple endocrine neoplasia type 1 20301710 MEN1 
613733 
Samples  Browse
Multiple endocrine neoplasia type 2 20301434  RET 
164761 
Samples Browse
Familial medullary thyroid cancer 20301434 RET 
164761
Samples Browse
PTEN hamartoma tumor syndrome 20301661 PTEN 
601728 
Samples Browse
Retinoblastoma 20301625 RB1 
614041 
Samples Browse
Hereditary paragangliomapheochromocytoma syndrome 20301715 SDHD 
602690 
Samples Browse
SDHAF2 
613019 
Samples Browse
SDHC 
602413 
Samples Browse
SDHB 
185470 
Samples Browse
Tuberous sclerosis complex 20301399

TSC1 
605284 

Samples Browse

TSC2 
191092 

Samples Browse
WT1-related Wilms tumor 20301471 WT1 
607102 
Samples Browse
Neurofibromatosis type 2 20301380 NF2 
607379 
Samples Browse
Ehlers-Danlos syndrome, vascular type 20301667

COL3A1 
120180 

Samples Browse
Marfan syndrome, Loeys-Dietz syndromes, and familial thoracic aortic aneurysms and dissections

20301510

20301312

20301299

FBN1 
134797 

Samples Browse
TGFBR1 
190181 
Samples Browse
TGFBR2 
190182 
Samples Browse
SMAD3 
603109 
Samples Browse
ACTA2 
102620 
Samples Browse
MYH11 
160745 
Samples Browse
Hypertrophic cardiomyopathy, dilated cardiomyopathy 20301725

MYBPC3 
600958 

Samples Browse

MYH7 
160760 

Samples Browse

TNNT2 
191045 

Samples Browse

TNNI3 
191044 

Samples Browse

TPM1 
191010 

Samples Browse

MYL3 
160790 

Samples Browse

ACTC1 
102540 

Samples Browse

PRKAG2 
602743 

Samples Browse

GLA 
300644 

Samples Browse

MYL2 
160781 

Samples Browse
LMNA 
150330 
Samples Browse
Catecholaminergic polymorphic ventricular tachycardia 20301466 RYR2 
180902 
Samples Browse
Arrhythmogenic right ventricular cardiomyopathy 20301310 PKP2 
602861 

Samples

Browse
DSP 
125647 
Samples Browse
DSC2 
125645 
Samples Browse
TMEM43 
612048 
Samples Browse
DSG2 
125671 
Samples Browse
Romano-Ward long-QT syndrome types 1, 2, and 3, Brugada syndrome 20301308 KCNQ1 
607542 
Samples Browse
KCNH2 
152427 
Samples Browse
SCN5A 
600163 
Samples Browse
Familial hypercholesterolemia 24404629 LDLR 
606945 
Samples Browse
APOB 
107730 
Samples Browse
PCSK9 
607786 
Samples Browse
Wilson disease 20301685 ATP7B 
606882 
Samples Browse
Ornithine transcarbamylase deficiency 24006547 OTC 
300461 
Samples Browse
Malignant hyperthermia susceptibility 20301325 RYR1 
180901 
Samples Browse
CACNA1S 
114208 
Samples Browse

Additional Resources:

NIH primer on ACMG 59 genes: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings

ACMG Reporting Recommendations: https://www.nature.com/articles/gim2016190

ACMG gene list via NCBI: https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/