List of variants reported as uncertain significance for central nervous system sarcoma by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.1812+3G>A	rs371562008	0.00009
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)	rs371056395	0.00009
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)	rs762962010	0.00002
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)	rs765058736	0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp)	rs749533909	0.00001
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His)	rs755987663	0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)	rs1060502082	0.00001
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg)	rs878854231	0.00001
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu)	rs370097699	0.00001
NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer)	rs1566260060
NM_003072.5(SMARCA4):c.1813-6_1813-4del	rs1864896196
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys)	rs1555751056
NM_003072.5(SMARCA4):c.2275-3C>T	rs117611401
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys)	rs1555778721
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.