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

Phenotype

Phenotype OMIM

GeneReviews PMID

Gene

Gene OMIM

Available Samples with Mutation Data

Hereditary breast and ovarian cancer  604370 20301425 BRCA1 113705 Samples
BRCA2 600185 Samples
Li-Fraumeni syndrome 151623 20301488 TP53 191170 Samples*
Peutz-Jeghers syndrome 175200 20301443 STK11 602216 Samples*
Lynch syndrome 120435 20301390 MLH1 120436 Samples*
MSH2 609309 Samples*
MSH6 600678 Samples*
PMS2 600259 Samples
Familial adenomatous polyposis 175100 20301519 APC 611731 Samples
MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas

608456  

132600

23035301 MUTYH 604933 Samples*
Juvenile polyposis 174900 20301642 BMPR1A 601299 Samples*
SMAD4 600993 Samples
Von Hippel–Lindau syndrome 193300 20301636 VHL 608537 Samples
Multiple endocrine neoplasia type 1 131100 20301710 MEN1 613733 Samples 
Multiple endocrine neoplasia type 2

171400

162300

20301434
RET 164761 Samples
Familial medullary thyroid cancer 155240 20301434 RET 164761 Samples
PTEN hamartoma tumor syndrome 153480 20301661 PTEN 601728 Samples
Retinoblastoma 180200 20301625 RB1 614041 Samples*
Hereditary paragangliomapheochromocytoma syndrome

168000 (PGL1)

601650 (PGL2)

605373 (PGL3)

115310 (PGL4)

20301715 SDHD 602690 Samples*
SDHAF2 613019 Samples*
SDHC 602413 Samples*
SDHB 185470 Samples*
Tuberous sclerosis complex

191100

613254

20301399

TSC1

605284

Samples

TSC2

191092

Samples
WT1-related Wilms tumor 194070 20301471 WT1 607102 Samples*
Neurofibromatosis type 2 101100 20301380 NF2 607379 Samples
Ehlers-Danlos syndrome, vascular type 130050 20301667 COL3A1 120180 Samples
Marfan syndrome, Loeys-Dietz syndromes, and familial thoracic aortic aneurysms and dissections

154700

609192

608967

610168

610380

613795

611788

20301510

20301312

20301299

FBN1 134797
Samples
TGFBR1 190181 Samples*
TGFBR2 190182 Samples*
SMAD3 603109 Samples*
ACTA2 102620 Samples*
MYH11 160745 Samples*
Hypertrophic cardiomyopathy, dilated cardiomyopathy

115197

192600

601494

613690

115196

608751

612098

600858

301500

608758

115200

20301725

MYBPC3

600958 Samples*

MYH7

160760 Samples

TNNT2

191045 Samples*

TNNI3

191044 Samples*

TPM1

191010 Samples*

MYL3

160790 Samples*

ACTC1

102540 Samples*

PRKAG2

602743 Samples*

GLA

300644 Samples

MYL2

160781 Samples
LMNA 150330 Samples
Catecholaminergic polymorphic ventricular tachycardia 604772 20301466 RYR2 180902 Samples*
Arrhythmogenic right ventricular cardiomyopathy

609040

604400

610476

607450

610193

20301310 PKP2 602861

Samples*

DSP 125647 Samples
DSC2 125645 Samples*
TMEM43 612048 Samples*
DSG2 125671 Samples*
Romano-Ward long-QT syndrome types 1, 2, and 3, Brugada syndrome

192500

613688

603830

601144

20301308 KCNQ1 607542 Samples*
KCNH2 152427 Samples
SCN5A 600163 Samples
Familial hypercholesterolemia

143890

603776

24404629 LDLR 606945 Samples
APOB 107730 Samples*
PCSK9 607786 Samples*
Wilson disease 277900 20301685 ATP7B 606882 Samples
Ornithine transcarbamylase deficiency 311250 24006547 OTC 300461 Samples
Malignant hyperthermia susceptibility 145600 20301325 RYR1 180901 Samples
CACNA1S 114208 Samples

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/