ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 91
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HGVS dbSNP
NM_000059.3(BRCA2):c.1179T>A (p.Cys393Ter) rs786201237
NM_000059.3(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.3(BRCA2):c.1379delA (p.Asn460Metfs) rs1064793945
NM_000059.3(BRCA2):c.1648G>T (p.Glu550Ter) rs1555281999
NM_000059.3(BRCA2):c.1733delG (p.Gly578Valfs) rs879255326
NM_000059.3(BRCA2):c.1792dupA (p.Thr598Asnfs) rs886040389
NM_000059.3(BRCA2):c.1841_1842dup (p.Asn615Leufs)
NM_000059.3(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.3(BRCA2):c.2176delG (p.Val726Phefs) rs1555282499
NM_000059.3(BRCA2):c.2251dupA (p.Thr751Asnfs) rs886040416
NM_000059.3(BRCA2):c.2253_2254delTG (p.Asp752Leufs) rs398122744
NM_000059.3(BRCA2):c.2480dupA (p.Asn827Lysfs) rs397507286
NM_000059.3(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.3(BRCA2):c.2687_2688insGA (p.Asn896Lysfs) rs1555282795
NM_000059.3(BRCA2):c.2731delG (p.Glu911Lysfs) rs80359344
NM_000059.3(BRCA2):c.2989_2990delTT (p.Leu997Argfs) rs1555282990
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.3(BRCA2):c.3076_3077delAA (p.Lys1026Glufs) rs1057517566
NM_000059.3(BRCA2):c.3273_3276delATTT (p.Leu1091Phefs) rs80359382
NM_000059.3(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.3(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.3(BRCA2):c.3481_3482dupGA (p.Asp1161Glufs) rs878853569
NM_000059.3(BRCA2):c.3649delA (p.Arg1217Glyfs) rs864622134
NM_000059.3(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.3(BRCA2):c.3738_3741delTATT (p.Asn1246Lysfs) rs1555283381
NM_000059.3(BRCA2):c.376C>T (p.Gln126Ter)
NM_000059.3(BRCA2):c.3935dup (p.Asn1312Lysfs)
NM_000059.3(BRCA2):c.3968_3971delAATA (p.Lys1323Ilefs) rs886040505
NM_000059.3(BRCA2):c.3972T>G (p.Tyr1324Ter)
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337Ilefs) rs878853577
NM_000059.3(BRCA2):c.4092_4093insAA (p.Cys1365Asnfs) rs876658329
NM_000059.3(BRCA2):c.4218_4221delAGAA (p.Lys1406Asnfs) rs80359435
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.4263dupT (p.Glu1422Terfs) rs1555283664
NM_000059.3(BRCA2):c.4270dup (p.Ser1424Phefs) rs1555283672
NM_000059.3(BRCA2):c.4570_4573delTTTC (p.Phe1524Ilefs) rs1057517565
NM_000059.3(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.3(BRCA2):c.476-4_476-1delCCAGinsT rs587782880
NM_000059.3(BRCA2):c.4822G>T (p.Glu1608Ter)
NM_000059.3(BRCA2):c.4894_4895delAG (p.Ser1632Tyrfs) rs397507748
NM_000059.3(BRCA2):c.4921G>T (p.Glu1641Ter)
NM_000059.3(BRCA2):c.5076delG (p.Trp1692Cysfs) rs876660524
NM_000059.3(BRCA2):c.5195delT (p.Leu1732Profs) rs587779363
NM_000059.3(BRCA2):c.5200dup (p.Glu1734Glyfs) rs1555284103
NM_000059.3(BRCA2):c.5201_5205delAAAAAinsGAAAAG (p.Glu1734Glyfs) rs483353082
NM_000059.3(BRCA2):c.5362_5363delTCinsA (p.Ser1788Thrfs)
NM_000059.3(BRCA2):c.5362dupT (p.Ser1788Phefs) rs587781849
NM_000059.3(BRCA2):c.5653delT (p.Cys1885Alafs) rs886040602
NM_000059.3(BRCA2):c.6116T>G (p.Leu2039Ter) rs1555284559
NM_000059.3(BRCA2):c.6155dup (p.Ser2053Ilefs)
NM_000059.3(BRCA2):c.632-1dup
NM_000059.3(BRCA2):c.6393delA (p.Lys2131Asnfs) rs886038145
NM_000059.3(BRCA2):c.6437_6440dup (p.His2147Glnfs) rs397507855
NM_000059.3(BRCA2):c.6762delT (p.Phe2254Leufs) rs80359624
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.6976delT (p.Ser2326Leufs) rs886040679
NM_000059.3(BRCA2):c.6999dup (p.Pro2334Thrfs)
NM_000059.3(BRCA2):c.7097dupT (p.Thr2367Aspfs) rs786202600
NM_000059.3(BRCA2):c.7110dupA (p.Ser2371Ilefs) rs80359638
NM_000059.3(BRCA2):c.7147dupT (p.Tyr2383Leufs) rs878853599
NM_000059.3(BRCA2):c.718_719delCT (p.Leu240Glufs) rs1555281459
NM_000059.3(BRCA2):c.7403dup (p.Thr2469Asnfs) rs1555286105
NM_000059.3(BRCA2):c.7414_7415delAA (p.Lys2472Valfs) rs80359650
NM_000059.3(BRCA2):c.7419T>A (p.Cys2473Ter) rs1555286120
NM_000059.3(BRCA2):c.7423G>T (p.Glu2475Ter)
NM_000059.3(BRCA2):c.7525dup (p.Ser2509Lysfs) rs80359656
NM_000059.3(BRCA2):c.7568dup (p.Lys2524Glufs)
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8332-1G>T rs397507979
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.3(BRCA2):c.8501delC (p.Thr2834Asnfs) rs80359712
NM_000059.3(BRCA2):c.8868dup (p.Gln2957Thrfs) rs1555288386
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.3(BRCA2):c.9254delC (p.Thr3085Lysfs) rs1555288587
NM_000059.3(BRCA2):c.9256_9256+1delGGinsTA rs587781422
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9465_9466insTGAT (p.Gln3156Terfs) rs1555289602
NM_000059.3(BRCA2):c.9501+1G>T rs397508058
NM_000059.3(BRCA2):c.9766_9770delGAGAA (p.Glu3256Argfs) rs1555289953
NM_000059.3:c.1846delT
NM_000059.3:c.3914_3915delTT
NM_000059.3:c.3937delT
NM_000059.3:c.4305_4309delTATTA
NM_000059.3:c.6237_6238delGT
NM_000059.3:c.7274delA
NM_000059.3:c.9770_9771delAA

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