List of variants in gene BRCA2 reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000059.4(BRCA2):c.7008-62A>G	rs76584943	0.00439
NM_000059.4(BRCA2):c.68-7T>A	rs81002830	0.00277
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)	rs56087561	0.00023
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)	rs28897722	0.00003
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)	rs80358636	0.00002
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)	rs80359097	0.00001
NM_000059.4(BRCA2):c.9319A>G (p.Ile3107Val)	rs879255336	0.00001
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)	rs80358852
NM_000059.4(BRCA2):c.6888A>G (p.Ile2296Met)	rs879255335

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.