Submissions for variant NM_001127208.3(TET2):c.3804-2A>C

dbSNP: rs576934285

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Genetics, Sadra Medical Genetics Laboratory	RCV002247164	SCV002515926	likely pathogenic	Myelodysplastic syndrome	2022-05-15	no assertion criteria provided	clinical testing	Genetics Counseling was performed for a large pedigree with several affected cases by different familial cancers (death below 50 Years old). Under clinical assessments by their medical team, WES was performed for only and one alive affected patient who primarily manifested by Myelodysplastic syndrome (negative cisplatin). At the time, this patient showed prostate cancer, and hepatocarcinoma. TET2(NM_001127208.3):c.3804-2A>C variant was established by Sadra Medical Genetic Lab, it was confirmed by Sanger sequencing method in the patient. TET2 mutations have incomplete pentrance and variable expressivity, so segregation study only performed for some distantly related members of his family. Our patient expired two months before. The patients previously affected with any types of familial cancers also expired, so, there were no options to do segregation study for the affected members. However, the c.3804-2A>C variant meets our criteria to be classified as likely pathogenic based upon segregation studies, and absence from controls at least for Myelodysplastic syndrome (negative cisplatin).