List of variants reported as uncertain significance for breast disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)	rs142155101	0.00153
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)	rs77130927	0.00051
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	rs140856217	0.00046
NM_003620.4(PPM1D):c.1405A>G (p.Lys469Glu)	rs61756416	0.00044
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	rs150624408	0.00026
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)	rs376676328	0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)	rs80357087	0.00019
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)	rs146946984	0.00009
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)	rs200620434	0.00006
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)	rs80357175	0.00004
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)	rs587781841	0.00002
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)	rs1555070958	0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val)	rs754275014	0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)	rs148061139	0.00001
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)	rs587781633	0.00001
NM_000546.6(TP53):c.-11G>A	rs773666793	0.00001
NM_001142556.2(HMMR):c.904+1G>T	rs374532508	0.00001
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)	rs876659400	0.00001
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)	rs1393117824	0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)	rs62625277	0.00001
NM_024675.4(PALB2):c.3114-130A>C	rs1304034435	0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)	rs373287455	0.00001
NM_000051.4(ATM):c.637T>C (p.Phe213Leu)	rs2079707663
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)	rs368466538
NM_000465.4(BARD1):c.1381G>T (p.Gly461Ter)
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)	rs2106076340
NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr)	rs1057518875
NM_001382430.1(AKT1):c.567+16T>G	rs1892625907
NM_003620.4(PPM1D):c.1640T>A (p.Met547Lys)	rs2031565605
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe)	rs147877722
NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)	rs766819113
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)	rs751841684
NM_032043.3(BRIP1):c.318del (p.His107fs)
NM_032043.3(BRIP1):c.368C>A (p.Ser123Ter)

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.