ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing

The American College of Medical Genetics and Genomics has published recommendations for reporting incidental findings in the exons of certain genes.

The most recent version recommendation is ACMG SF v2.0 (PubMed 27854360). Compared to the first version, four genes were added - BMPR1A, SMAD4, ATP7B, and OTC - and one gene, MYLK, was removed.

The original published recommendation (PubMed 23788249) and the original PDF file are available as well as clarifications and updates.  Please note that in an update to the original list, NTRK1 was removed.

NCBI adapted Table 1 of the original recommendation to facilitate access to information about the genes and disorders it cites, and to provide links to variation asserted to be pathogenic or likely pathogenic by at least one submitter  to ClinVar.  The content was generated from the MIM numbers reported in the recommendations for the genes and disorders,  but the disease names were altered to correspond to what is used in MedGen for that MIM number.  The link to ClinVar is provided only to support access; the results should not be interpreted as a statement that these alleles are universally accepted to be pathogenic or likely pathogenic.

Disease name and MIM number MedGen Gene via GTR Variations that may
be pathogenic
Adenomatous polyposis coli (MIM 175100) MedGen APC (MIM 611731) ClinVar
Aortic aneurysm, familial thoracic 4 (MIM 132900) MedGen MYH11 (MIM 160745) ClinVar
Aortic aneurysm, familial thoracic 6 (MIM 611788) MedGen ACTA2 (MIM 102620) ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 5 (MIM 604400) MedGen TMEM43 (MIM 612048) ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 8 (MIM 607450) MedGen DSP (MIM 125647) ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 9 (MIM 609040) MedGen PKP2 (MIM 602861) ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 10 (MIM 610193) MedGen DSG2 (MIM 125671) ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 11 (MIM 610476) MedGen DSC2 (MIM 125645) ClinVar
Breast-ovarian cancer, familial 1 (MIM 604370) MedGen BRCA1 (MIM 113705) ClinVar
Breast-ovarian cancer, familial 2 (MIM 612555) MedGen BRCA2 (MIM 600185) ClinVar
Brugada syndrome 1 (MIM 601144) MedGen SCN5A (MIM 600163) ClinVar
Catecholaminergic polymorphic ventricular tachycardia (MIM 604772) MedGen RYR2 (MIM 180902) ClinVar
Dilated cardiomyopathy 1A (MIM 115200) MedGen LMNA (MIM 150330) ClinVar
Dilated cardiomyopathy 1A (MIM 115200) MedGen MYBPC3 (MIM 600958) ClinVar
Ehlers-Danlos syndrome, type 4 (MIM 130050) MedGen COL3A1 (MIM 120180) ClinVar
Fabry's disease (MIM 301500) MedGen GLA (MIM 300644) ClinVar
Familial hypercholesterolemia (MIM 143890) MedGen APOB (MIM 107730) ClinVar
LDLR (MIM 606945) ClinVar
Familial hypertrophic cardiomyopathy 1 (MIM 192600) MedGen MYH7 (MIM 160760) ClinVar
Familial hypertrophic cardiomyopathy 3 (MIM 115196) MedGen TPM1 (MIM 191010) ClinVar
Familial hypertrophic cardiomyopathy 4 (MIM 115197) MedGen MYBPC3 (MIM 600958) ClinVar
Familial hypertrophic cardiomyopathy 6 (MIM 600858) MedGen PRKAG2 (MIM 602743) ClinVar
Familial hypertrophic cardiomyopathy 7 (MIM 613690) MedGen TNNI3 (MIM 191044) ClinVar
Familial hypertrophic cardiomyopathy 8 (MIM 608751) MedGen MYL3 (MIM 160790) ClinVar
Familial hypertrophic cardiomyopathy 10 (MIM 608758) MedGen MYL2 (MIM 160781) ClinVar
Familial hypertrophic cardiomyopathy 11 (MIM 612098) MedGen ACTC1 (MIM 102540) ClinVar
Familial medullary thyroid carcinoma (MIM 155240) MedGen RET (MIM 164761) ClinVar
Hypercholesterolemia, autosomal dominant, 3 (MIM 603776) MedGen PCSK9 (MIM 607786) ClinVar
Juvenile polyposis syndrome, (MIM 174900) MedGen BMPR1A (MIM 601299) ClinVar
Juvenile polyposis syndrome, (MIM 174900) MedGen SMAD4 (MIM 600993) ClinVar
Left ventricular noncompaction 6 (MIM 601494) MedGen TNNT2 (MIM 191045) ClinVar
Li-Fraumeni syndrome 1 (MIM 151623) MedGen TP53 (MIM 191170) ClinVar
Loeys-Dietz syndrome type 1A (MIM 609192) MedGen TGFBR1 (MIM 190181) ClinVar
Loeys-Dietz syndrome type 1B (MIM 610168) MedGen TGFBR2 (MIM 190182) ClinVar
Loeys-Dietz syndrome type 2A (MIM 608967) MedGen TGFBR1 (MIM 190181) ClinVar
Loeys-Dietz syndrome type 2B (MIM 610380) MedGen TGFBR2 (MIM 190182) ClinVar
Loeys-Dietz syndrome type 3 (MIM 613795) MedGen SMAD3 (MIM 603109) ClinVar
Long QT syndrome 1 (MIM 192500) MedGen KCNQ1 (MIM 607542) ClinVar
Long QT syndrome 2 (MIM 613688) MedGen KCNH2 (MIM 152427) ClinVar
Long QT syndrome 3 (MIM 603830) MedGen SCN5A (MIM 600163) ClinVar
Lynch syndrome (MIM 120435)
 
MedGen MLH1 (MIM 120436) ClinVar
MedGen MSH2 (MIM 609309) ClinVar
MedGen MSH6 (MIM 600678) ClinVar
MedGen PMS2 (MIM 600259) ClinVar
Malignant hyperthermia (MIM 145600) MedGen RYR1 (MIM 180901) ClinVar
MedGen CACNA1S (MIM 114208) ClinVar
Marfan's syndrome (MIM 154700) MedGen FBN1 (MIM 134797) ClinVar
Marfan's syndrome (MIM 154700) MedGen TGFBR1 (MIM 190181) ClinVar
Multiple endocrine neoplasia, type 1 (MIM 131100) MedGen MEN1 (MIM 613733) ClinVar
Multiple endocrine neoplasia, type 2a (MIM 171400) MedGen RET (MIM 164761) ClinVar
Multiple endocrine neoplasia, type 2b (MIM 162300) MedGen
MYH-associated polyposis (MIM 608456) MedGen MUTYH (MIM 604933) ClinVar
Neurofibromatosis, type 2 (MIM 101000) MedGen NF2 (MIM 607379) ClinVar
Ornithine carbamoyltransferase deficiency (MIM 311250) MedGen OTC (MIM 300461) ClinVar
Paragangliomas 1 (MIM 168000) MedGen SDHD (MIM 602690) ClinVar
Paragangliomas 2 (MIM 601650) MedGen SDHAF2 (MIM 613019) ClinVar
Paragangliomas 3 (MIM 605373) MedGen SDHC (MIM 602413) ClinVar
Paragangliomas 4 (MIM 115310) MedGen SDHB (MIM 185470) ClinVar
Peutz-Jeghers syndrome (MIM 175200) MedGen STK11 (MIM 602216) ClinVar
Pilomatrixoma (MIM 132600) MedGen MUTYH (MIM 604933) ClinVar
PTEN hamartoma tumor syndrome (MIM 153480) MedGen PTEN (MIM 601728) ClinVar
Retinoblastoma (MIM 180200) MedGen RB1 (MIM 614041) ClinVar
Tuberous sclerosis 1 (MIM 191100) MedGen TSC1 (MIM 605284) ClinVar
Tuberous sclerosis 2 (MIM 613254) MedGen TSC2 (MIM 191092) ClinVar
Von Hippel-Lindau syndrome (MIM 193300) MedGen VHL (MIM 608537) ClinVar
Wilms' tumor (MIM 194070) MedGen WT1 (MIM 607102) ClinVar
Wilson disease (MIM 277900) MedGen ATP7B (MIM 606882) ClinVar

Last updated: 2017-06-08T12:33:59-04:00