ACMG Secondary Finding (SF) Genes

The American College of Medical Genetics and Genomics (ACMG) has compiled a list of SF 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 SF 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
		PALB2 610355	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 paraganglioma-pheochromocytoma syndrome	20301715	SDHD  602690	Samples*	Browse
		SDHAF2  613019	Samples*	Browse
		SDHC  602413	Samples*	Browse
		SDHB  185470	Samples*	Browse
		MAX 154950	Samples*	Browse
		TMEM127 613403	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
		FLNC 102565	Samples	Browse
		TTN 188840	Samples	Browse
		BAG3 603883	Samples	Browse
		DES 125660	Samples	Browse
		RBM20 613171	Samples	Browse
		TNNC1 191040	Samples	Browse
Catecholaminergic polymorphic ventricular tachycardia	20301466	RYR2  180902	Samples*	Browse
		CASQ2 114251	Samples*	Browse
		TRDN 603283	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, 3, 14, 15 and 16, Brugada syndrome	20301308	KCNQ1  607542	Samples*	Browse
		KCNH2  152427	Samples	Browse
		SCN5A  600163	Samples	Browse
		CALM1 114180	Samples	Browse
		CALM2 114182	Samples	Browse
		CALM3 114183	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
Biotinidase deficiency	20301497	BTD 609019	Samples	Browse
Pompe Disease	20301438	GAA 606800	Samples	Browse
Malignant hyperthermia susceptibility	20301325	RYR1  180901	Samples	Browse
		CACNA1S  114208	Samples	Browse
Hereditary hemochromatosis	20301613	HFE 613609	Samples	Browse
Hereditary hemorrhagic telangiectasia	20301525	ACVRL1 601284	Samples*	Browse
		ENG 131195	Samples	Browse
Maturity-onset diabetes of the young	29792621	HNF1A 142410	Samples*	Browse
RPE65-related retinopathy	31725251	RPE65 180069	Samples*	Browse
Hereditary TTR amyloidosis	33188616	TTR 176300	Samples	Browse

Additional Resources:

• ACMG SF gene list via NCBI: https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/
  
  
• What are secondary findings?: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
  
  
• ACMG SF v3.2 (ACMG 81 Genes)
  "ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)"
  

  https://pubmed.ncbi.nlm.nih.gov/37347242/
  https://www.gimjournal.org/article/S1098-3600(23)00879-1/fulltext
  
  

• ACMG SF v3.1 (ACMG 78 Genes)
  "ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)"
  

  https://pubmed.ncbi.nlm.nih.gov/35802134/
  https://www.gimjournal.org/article/S1098-3600(22)00723-7/fulltext
  

  
  
• ACMG SF v3.0 (ACMG 73 Genes)
  "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)"
  https://pubmed.ncbi.nlm.nih.gov/34012068/
  https://www.nature.com/articles/s41436-021-01172-3
  https://www.nature.com/articles/s41436-021-01278-8
  https://www.acmg.net/PDFLibrary/41436_2021_1172_OnlinePDF-1.pdf
  
  
• ACMG SF v2.0 (ACMG 59 Genes)
  "Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics"
  https://pubmed.ncbi.nlm.nih.gov/27854360/
  https://www.nature.com/articles/gim2016190
  
  
• ACMG SF v1.0
  "ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing"
  https://pubmed.ncbi.nlm.nih.gov/23788249/
  https://www.nature.com/articles/gim201373
  
  

*Note: this page has been updated to reflect ACMG SF v3.2 which included 8 additional genes to list of 73 genes from v3.0 (BAG3, DES, RBM20, TNNC1, TTR, CALM1, CALM2 and CALM3). This is an up-to-date version of the ACMG SF Genes webpage.