Unique variants in the NBN gene

Information The variants shown are described using the NM_002485.4 transcript reference sequence.

574 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 1 c.-2C>T r.(?) p.(=) - benign g.90996791G>A g.89984563G>A - - NBN_000160 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs202104448 Germline - 1/11241 controls - - - Yukihide Momozawa
+?/., ?/. 2 - c.2T>C r.(?), r.? p.(Met1?), p.? - likely pathogenic, NA g.90996788A>G g.89984560A>G chr8_90996788_A_G - NBN_000177 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_Nijmegen, BRIDGES consortium
?/. 1 - c.8A>G r.(?) p.(Lys3Arg) - NA g.90996782T>C - chr8_90996782_T_C - NBN_000582 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.11T>C r.(?) p.(Leu4Pro) - VUS g.90996779A>G g.89984551A>G - - NBN_000161 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.11T>G r.(?) p.(Leu4Arg) - NA g.90996779A>C - chr8_90996779_A_C - NBN_000581 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.16C>T r.(?) p.(Pro6Ser) - NA g.90996774G>A - chr8_90996774_G_A - NBN_000580 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 5/60466 cases - - - BRIDGES consortium
?/. 3 1 c.18C>G r.(?) p.(=) - VUS g.90996772G>C g.89984544G>C - - NBN_000158 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/7051 cases breast cancer, 5/12490 controls, 9/11241 controls - - - Yukihide Momozawa
?/. 1 - c.19G>A r.(?) p.(Ala7Thr) - VUS g.90996771C>T g.89984543C>T - - NBN_000159 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780779 Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.26G>A r.(?) p.(Gly9Asp) - NA g.90996764C>T - chr8_90996764_C_T - NBN_000579 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 3 1 c.32C>T r.(?) p.(Ala11Val) - VUS g.90996758G>A g.89984530G>A - - NBN_000156 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls, 2/7051 cases breast cancer, 3/11241 controls - - - Yukihide Momozawa
?/. 1 - c.36A>C r.(?) p.(=) - VUS g.90996754T>G g.89984526T>G - - NBN_000157 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
+?/. 1 - c.37+1G>A r.spl? p.? - likely pathogenic g.90996752C>T g.89984524C>T - - NBN_000182 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs574673404 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. 1 - c.37+5G>A r.spl? p.? - benign g.90996748C>T g.89984520C>T NBN(NM_002485.4):c.37+5G>A - NBN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.38-10T>A r.(=) p.(=) - likely benign g.90995093A>T - NBN(NM_002485.4):c.38-10T>A - NBN_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.38-2A>G r.spl? p.? - NA g.90995085T>C - chr8_90995085_T_C - NBN_000578 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 1 c.40_42del r.(?) p.(Glu14del) - VUS g.90995080_90995082del g.89982852_89982854del - - NBN_000155 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 - c.42A>C r.(?) p.(Glu14Asp) - NA g.90995079T>G - chr8_90995079_T_G - NBN_000577 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 1 c.52C>T r.(?) p.(Leu18Phe) - VUS g.90995069G>A g.89982841G>A - - NBN_000153 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 2 - c.55_56del r.(?) p.(Leu19Aspfs*4) - NA g.90995067_90995068del - chr8_90995064_CAA_C - NBN_000576 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.60del r.(?) p.(Gly21Alafs*14) - NA g.90995061del - chr8_90995060_CA_C - NBN_000575 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 2 - c.64G>A r.(?) p.(Val22Ile) - NA g.90995057C>T - chr8_90995057_C_T - NBN_000574 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.68A>T r.(?) p.(Glu23Val) - VUS g.90995053T>A g.89982825T>A - - NBN_000154 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.70T>C r.(?) p.(Tyr24His) - NA g.90995051A>G - chr8_90995051_A_G - NBN_000573 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.73G>A r.(?) p.(Val25Ile) - NA g.90995048C>T - chr8_90995048_C_T - NBN_000572 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 4/60466 cases - - - BRIDGES consortium
?/. 1 - c.75dup r.(?) p.(Val26Cysfs*11) - NA g.90995047dup - chr8_90995045_C_CA - NBN_000571 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.77T>C r.(?) p.(Val26Ala) - NA g.90995044A>G - chr8_90995044_A_G - NBN_000570 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls - - - BRIDGES consortium
?/. 1 - c.82A>G r.(?) p.(Arg28Gly) - NA g.90995039T>C - chr8_90995039_T_C - NBN_000569 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.83G>A r.(?) p.(Arg28Lys) - NA g.90995038C>T - chr8_90995038_C_T - NBN_000568 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 1 c.84G>T r.(?) p.(Arg28Ser) - VUS g.90995037C>A g.89982809C>A - - NBN_000152 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.85A>G r.(?) p.(Lys29Glu) - NA g.90995036T>C - chr8_90995036_T_C - NBN_000567 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.88_89del r.(?) p.(Asn30Leufs*6) - NA g.90995035_90995036del - chr8_90995031_GTT_G - NBN_000566 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.86A>G r.(?) p.(Lys29Arg) - NA g.90995035T>C - chr8_90995035_T_C - NBN_000565 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.88A>C r.(?) p.(Asn30His) - NA g.90995033T>G - chr8_90995033_T_G - NBN_000564 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.88A>G r.(?) p.(Asn30Asp) - NA g.90995033T>C - chr8_90995033_T_C - NBN_000563 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.91T>C r.(?) p.(Cys31Arg) - NA g.90995030A>G - chr8_90995030_A_G - NBN_000562 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
-/. 12 1 c.102G>A r.(?) p.(=), p.(Leu34=) - benign g.90995019C>T g.89982791C>T NBN(NM_002485.4):c.102G>A (p.L34=) - NBN_000052 VKGL data sharing initiative Nederland PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 CLASSIFICATION record, Germline - 16/53 cases, 1782/7051 cases breast cancer, 22/53 cases, 2858/11241 controls, 3157/12489 controls, 3 more items - - - Yukihide Momozawa, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, Maximiliano Zeballos
?/. 5 1 c.104T>C r.(?) p.(Ile35Thr) - NA, VUS g.90995017A>G g.89982789A>G chr8_90995017_A_G, NBN(NM_002485.4):c.104T>C (p.I35T) - NBN_000149 not in 7051 cases breast cancer, VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780773 CLASSIFICATION record, Germline - 1/12490 controls, 11/53461 controls, 12/60466 cases, 7/11241 controls - - - Yukihide Momozawa, VKGL-NL_Rotterdam, BRIDGES consortium
?/. 1 - c.105T>A r.(?) p.(=) - VUS g.90995016A>T g.89982788A>T - - NBN_000151 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs78870221 Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 2 - c.105T>G r.(?) p.(Ile35Met) - NA g.90995016A>C - chr8_90995016_A_C - NBN_000561 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 7/60466 cases - - - BRIDGES consortium
?/. 1 - c.111T>A r.(?) p.(Asn37Lys) - NA g.90995010A>T - chr8_90995010_A_T - NBN_000560 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.113A>T r.(?) p.(Asp38Val) - NA g.90995008T>A - chr8_90995008_T_A - NBN_000559 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.115C>T r.(?) p.(Gln39*) - NA g.90995006G>A - chr8_90995006_G_A - NBN_000558 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.116A>G r.(?) p.(Gln39Arg) - NA g.90995005T>C - chr8_90995005_T_C - NBN_000557 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.119C>T r.(?) p.(Ser40Leu) - NA g.90995002G>A - chr8_90995002_G_A - NBN_000556 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 3/53461 controls - - - BRIDGES consortium
?/. 1 - c.120G>A r.(?) p.(=) - VUS g.90995001C>T g.89982773C>T - - NBN_000150 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 2 - c.121A>T r.(?) p.(Ile41Phe) - NA g.90995000T>A - chr8_90995000_T_A - NBN_000555 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.133C>G r.(?) p.(His45Asp) - NA g.90994988G>C - chr8_90994988_G_C - NBN_000554 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 1 c.133C>T r.(?) p.(His45Tyr) - VUS g.90994988G>A g.89982760G>A - - NBN_000148 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs773865323 Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.134A>G r.(?) p.(His45Arg) - NA g.90994987T>C - chr8_90994987_T_C - NBN_000553 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 1 c.138T>C r.(?) p.(=) - VUS g.90994983A>G g.89982755A>G - - NBN_000147 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 - c.140T>C r.(?) p.(Val47Ala) - NA g.90994981A>G - chr8_90994981_A_G - NBN_000552 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.146C>T r.(?) p.(Thr49Ile) - NA g.90994975G>A - chr8_90994975_G_A - NBN_000551 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.148G>A r.(?) p.(Ala50Thr) - NA g.90994973C>T - chr8_90994973_C_T - NBN_000550 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 1 c.151A>T r.(?) p.(Asn51Tyr) - VUS g.90994970T>A g.89982742T>A - - NBN_000146 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 2 - c.157dup r.(?) p.(Ser53Phefs*10) - NA g.90994967dup - chr8_90994963_G_GA - NBN_000549 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.156_157del r.(?) p.(Ser53Cysfs*9) - NA g.90994966_90994967del - chr8_90994963_GAA_G - NBN_000548 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 10/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 1 - c.160G>A r.(?) p.(Val54Ile) - NA g.90994961C>T - chr8_90994961_C_T - NBN_000547 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.168C>G r.(?) p.(Asn56Lys) - NA g.90994953G>C - chr8_90994953_G_C - NBN_000546 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+?/., ?/. 2 - c.171+1G>A r.spl? p.? - likely pathogenic, NA g.90994949C>T - chr8_90994949_C_T - NBN_000545 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 2/60466 cases - - - VKGL-NL_Nijmegen, BRIDGES consortium
?/. 1 - c.179C>A r.(?) p.(Thr60Lys) - NA g.90993744G>T - chr8_90993744_G_T - NBN_000544 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.181_182del r.(?) p.(Asp61*) - NA g.90993742_90993743del - chr8_90993740_ATC_A - NBN_000543 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 1 c.181G>A r.(?) p.(Asp61Asn) - VUS g.90993742C>T g.89981514C>T - - NBN_000142 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls, 3/11241 controls - - - Yukihide Momozawa
?/. 1 - c.182A>G r.(?) p.(Asp61Gly) - NA g.90993741T>C - chr8_90993741_T_C - NBN_000542 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.188T>A r.(?) p.(Ile63Asn) - VUS g.90993735A>T g.89981507A>T - - NBN_000145 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.190C>T r.(?) p.Pro64Ser ACMG VUS g.90993733G>A g.89981505G>A - - NBN_000162 not affected, mother BC at age 36y, sister BC at age 36y, father prostate-cancer at age 41y - - rs267602038 Germline - - - - - Andreas Laner
?/. 1 - c.191C>G r.(?) p.(Pro64Arg) - NA g.90993732G>C - chr8_90993732_G_C - NBN_000540 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.191C>T r.(?) p.(Pro64Leu) - NA g.90993732G>A - chr8_90993732_G_A - NBN_000541 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.192T>A r.(?) p.(=) - VUS g.90993731A>T g.89981503A>T - - NBN_000144 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
-?/. 1 - c.207A>G r.(?) p.(Lys69=) - likely benign g.90993716T>C - NBN(NM_002485.4):c.207A>G (p.K69=) - NBN_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.208G>A r.(?) p.(Asp70Asn) - VUS g.90993715C>T g.89981487C>T - - NBN_000143 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs560337591 Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 2 c.209A>C r.(?) p.(Asp70Ala) - VUS g.90993714T>G g.89981486T>G - - NBN_000140 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.209A>G r.(?) p.(Asp70Gly) - NA g.90993714T>C - chr8_90993714_T_C - NBN_000539 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.215C>T r.(?) p.(Ser72Phe) - VUS g.90993708G>A g.89981480G>A - - NBN_000141 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.217A>C r.(?) p.(Lys73Gln) - NA g.90993706T>G - chr8_90993706_T_G - NBN_000538 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.221A>G r.(?) p.(Tyr74Cys) - NA g.90993702T>C - chr8_90993702_T_C - NBN_000537 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 2 - c.224G>C r.(?) p.(Gly75Ala) - NA g.90993699C>G - chr8_90993699_C_G - NBN_000536 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 2 - c.224G>T r.(?) p.(Gly75Val) - NA g.90993699C>A - chr8_90993699_C_A - NBN_000535 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.227C>T r.(?) p.(Thr76Ile) - NA g.90993696G>A - chr8_90993696_G_A - NBN_000534 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.228_231dup r.(?) p.(Val78Leufs*3) - NA g.90993692_90993695dup - chr8_90993691_C_CAAAG - NBN_000533 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.235A>G r.(?) p.(Asn79Asp) - NA g.90993688T>C - chr8_90993688_T_C - NBN_000532 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.236A>G r.(?) p.(Asn79Ser) - NA g.90993687T>C - chr8_90993687_T_C - NBN_000531 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.241G>C r.(?) p.(Glu81Gln) - NA g.90993682C>G - chr8_90993682_C_G - NBN_000530 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-/. 1 2 c.243A>G r.(?) p.(=) - benign g.90993680T>C g.89981452T>C - - NBN_000139 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203921 Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.248T>A r.(?) p.(Met83Lys) - NA g.90993675A>T - chr8_90993675_A_T - NBN_000529 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.249G>A r.(?) p.(Met83Ile) - NA g.90993674C>T - chr8_90993674_C_T - NBN_000528 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 3 2 c.250C>A r.(?) p.(Gln84Lys) - VUS g.90993673G>T g.89981445G>T - - NBN_000136 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls, 1/7051 cases breast cancer, 4/12490 controls - - - Yukihide Momozawa
?/. 2 - c.254A>G r.(?) p.(Asn85Ser) - NA, VUS g.90993669T>C g.89981441T>C chr8_90993669_T_C - NBN_000138 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780095 Germline - 1/12490 controls, 2/53461 controls - - - Yukihide Momozawa, BRIDGES consortium
?/. 1 - c.260T>C r.(?) p.(Phe87Ser) - NA g.90993663A>G - chr8_90993663_A_G - NBN_000527 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/., ?/. 2 - c.265C>T r.(?) p.(Arg89*) - NA, pathogenic g.90993658G>A g.89981430G>A chr8_90993658_G_A - NBN_000137 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls, 2/60466 cases - - - Yukihide Momozawa, BRIDGES consortium
?/. 1 - c.266G>A r.(?) p.(Arg89Gln) - NA g.90993657C>T - chr8_90993657_C_T - NBN_000525 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.266G>C r.(?) p.(Arg89Pro) - NA g.90993657C>G - chr8_90993657_C_G - NBN_000526 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls, 7/60466 cases - - - BRIDGES consortium
?/. 1 - c.273del r.(?) p.(Lys92Serfs*17) - NA g.90993650del - chr8_90993649_TC_T - NBN_000524 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.276G>C r.(?) p.(Lys92Asn) - NA g.90993647C>G - chr8_90993647_C_G - NBN_000523 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 3 3 c.278C>T r.(?) p.(Ser93Leu) - NA, VUS g.90993645G>A g.89981417G>A chr8_90993645_G_A - NBN_000017 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Varon 2001 - - Germline, Unknown - 14/60466 cases, 9/53461 controls - - - Johan den Dunnen, BRIDGES consortium
?/. 1 2 c.280G>C r.(?) p.(Gly94Arg) - VUS g.90993643C>G g.89981415C>G - - NBN_000135 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
-/., -?/., ?/. 5 3 c.283G>A r.(?) p.(Asp95Asn) - benign, likely benign, VUS g.90993640C>T g.89981412C>T NBN(NM_001024688.3):c.37G>A (p.D13N), NBN(NM_002485.4):c.283G>A (p.D95N) - NBN_000018 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Varon 2001 - rs61753720 CLASSIFICATION record, Germline, Unknown - 2/2795 individuals FokI- - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, Mohammed Faruq
?/. 3 - c.284A>G r.(?) p.(Asp95Gly) - NA, VUS g.90993639T>C g.89981411T>C chr8_90993639_T_C, NBN(NM_002485.4):c.284A>G (p.D95G) - NBN_000051 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 17/60466 cases, 5/53461 controls - - - VKGL-NL_Rotterdam, BRIDGES consortium
?/. 2 - c.286G>A r.(?) p.(Gly96Ser) - NA g.90993637C>T - chr8_90993637_C_T - NBN_000522 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.298G>A r.(?) p.(Gly100Arg) - NA g.90993625C>T - chr8_90993625_C_T - NBN_000521 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.302T>C r.(?) p.(Val101Ala) - NA g.90993621A>G - chr8_90993621_A_G - NBN_000520 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 12/60466 cases, 15/53461 controls - - - BRIDGES consortium
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