dbBRCA - Chinese

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Variant ID	Gene	Exon	HGVS cDNA	HGVS Protein	HGVS Genome (hg19)	Reported	dbSNP150 ID	Mutation Type	Clinical Impact	Original References	region_code
1	BRCA1;NBR2	exon 2	c.-219G>A	p.(=)	g.43125470C>T	LOVD	.	.	Unclassified	Chinamap	Mainland China
2	BRCA1;NBR2	exon 2	c.-219G>C	p.(=)	g.43125470C>G	.	.	.	Unclassified	Chinamap	Mainland China
3	BRCA1;NBR2	exon 2	c.-198T>C	p.(=)	g.43125449A>G	1000_Genomes	rs569113962	.	Unclassified	Chinamap Genome_vn Nyuwa	Mainland China
4	BRCA1;NBR2	exon 2	c.-149A>G	p.(=)	g.43125400T>C	.	.	.	Unclassified	Nyuwa	Mainland China
5	BRCA1;NBR2	exon 2	c.-125C>T	p.(=)	g.43125376G>A	1000_Genomes ClinVar LOVD	rs148196794	.	Conflicting interpretations of pathogenicity	Chinamap KR_1k Nyuwa	Mainland China
6	BRCA1;NBR2	exon 2	c.-120T>A	p.(=)	g.43125371A>T	.	.	.	Unclassified	Chinamap	Mainland China
7	BRCA1	exon 2	c.-112C>T	p.(=)	g.43125363G>A	.	.	.	Unclassified	Chinamap	Mainland China
8	BRCA1	exon 2	c.-106C>T	p.(=)	g.43125357G>A	1000_Genomes ClinVar GnomADv3	rs527449526	.	Uncertain significance	1KG_as Chinamap Nyuwa	Mainland China
9	BRCA1	exon 2	c.-97C>A	p.(=)	g.43125348G>T	GnomAD GnomADv3	rs766347954	.	Unclassified	Chinamap Nyuwa	Mainland China
10	BRCA1	exon 2	c.-92G>T	p.(=)	g.43125343C>A	.	.	.	Unclassified	Chinamap	Mainland China
11	BRCA1	exon 2	c.-84G>A	p.(=)	g.43125335C>T	.	.	.	Unclassified	Chinamap	Mainland China
12	BRCA1	exon 2	c.-60C>G	p.(=)	g.43125311G>C	.	.	.	Unclassified	Chinamap	Mainland China
13	BRCA1	exon 2	c.-56G>A	p.(=)	g.43125307C>T	.	.	.	Unclassified	Chinamap	Mainland China
14	BRCA1	exon 2	c.-55C>T	p.(=)	g.43125306G>A	.	.	.	Unclassified	Nyuwa	Mainland China
15	BRCA1	exon 2	c.-53C>T	p.(=)	g.43125304G>A	.	.	.	Likely benign	Chinamap Nyuwa	Mainland China
16	BRCA1	exon 2	c.-48G>A	p.(=)	g.43125299C>T	.	.	.	Unclassified	Chinamap	Mainland China
17	BRCA1	exon 2	c.-43C>T	p.(=)	g.43125294G>A	.	.	.	Unclassified	Chinamap Nyuwa	Mainland China
18	BRCA1	exon 2	c.-20G>A	p.(=)	g.43125271C>T	ClinVar GnomADv3	rs886039588	.	Uncertain significance	Chinamap	Mainland China
19	BRCA1	intron 1	c.-20+15G>A	p.(=)	g.43125256C>T	.	.	.	Unclassified	Chinamap Nyuwa	Mainland China
20	BRCA1	intron 1	c.-19-115T>C	p.(=)	g.43124230A>G	ENIGMA 1000_Genomes ClinVar LOVD BIC GnomAD GnomADv3	rs3765640	.	Benign	L_393 L_523	Macau
21	BRCA1	intron 1	c.-19-91A>C	p.(=)	g.43124206T>G	LOVD GnomADv3	.	.	Unclassified	L_523	Macau
22	BRCA1	intron 1	c.-19-89T>G	p.(=)	g.43124204A>C	1000_Genomes GnomADv3	rs566378020	.	Unclassified	L_523	Macau
23	BRCA1	intron 1	c.-19-34A>T	p.(=)	g.43124149T>A	.	.	.	Unclassified	L_523	Macau
24	BRCA1	intron 1	c.-19-33del	p.(=)	g.43124148del	.	.	.	Unclassified	L_523	Macau
25	BRCA1	intron 1	c.-19-21_-19-20insAT	p.(=)	g.43124135_43124136insAT	.	rs273898667	.	Unclassified	Chinamap JPN_db Nyuwa	Mainland China
26	BRCA1	intron 1	c.-19-10T>C	p.(=)	g.43124125A>G	1000_Genomes ClinVar LOVD exLOVD ExAC BIC GnomAD GnomADv3	rs201866997	.	Benign/Likely benign	L_139 L_154 L_371 L_408 L_523 Qatar_db	Macau
27	BRCA1	intron 1	c.-19-7G>A	p.(=)	g.43124122C>T	ClinVar LOVD GnomAD GnomADv3	.	.	Likely benign	L_523 Chinamap Nyuwa	Mainland China\|Macau
28	BRCA1	intron 1	c.-19-3A>G	p.(=)	g.43124118T>C	ENIGMA 1000_Genomes ClinVar LOVD exLOVD ExAC BIC GnomAD GnomADv3 ENIGMA_BRCA12_Functional_Assays	rs273898669	.	Benign	L_371 L_378 L_435 L_488 L_523 1KG_as Chinamap IndiGEN JPN_db KR_1k Nyuwa	Mainland China\|Macau
29	BRCA1	exon 3	c.-18T>C	p.(=)	g.43124114A>G	LOVD ENIGMA_BRCA12_Functional_Assays	.	.	Unclassified	L_521	Mainland China
30	BRCA1	exon 3	c.-7G>A	p.(=)	g.43124103C>T	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	.	Likely benign	L_243 L_247 L_323	Mainland China
31	BRCA1	exon 3	c.-5A>G	p.(=)	g.43124101T>C	LOVD ENIGMA_BRCA12_Functional_Assays	.	.	Unclassified	L_521	Mainland China
32	BRCA1	exon 3	c.-4A>G	p.(=)	g.43124100T>C	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	.	Likely benign	L_521	Mainland China
33	BRCA1	exon 3	c.-2A>T	p.(=)	g.43124098T>A	LOVD BIC ENIGMA_BRCA12_Functional_Assays	rs273899693	.	Uncertain significance	L_105 L_137	Mainland China
34	BRCA1	exon 3	c.2T>G	p.?	g.43124095A>C	ClinVar LOVD BIC ENIGMA_BRCA12_Functional_Assays	rs80357111	startloss	Pathogenic	L_292 L_385 L_50	Mainland China
35	BRCA1	exon 3	c.3G>C	p.?	g.43124094C>G	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	rs80357475	startloss	Pathogenic	L_374	Mainland China
36	BRCA1	exon 3	c.3G>T	p.?	g.43124094C>A	ENIGMA ClinVar LOVD exLOVD BIC ENIGMA_BRCA12_Functional_Assays	rs80357475	startloss	Pathogenic	L_374	Mainland China
37	BRCA1	exon 3	c.5A>G	p.(Asp2Gly)	g.43124092T>C	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Uncertain significance	L_521	Mainland China
38	BRCA1	exon 3	c.10T>C	p.(Ser4Pro)	g.43124087A>G	ClinVar LOVD exLOVD ENIGMA_BRCA12_Functional_Assays	rs876658707	nonsynonymous SNV	Conflicting interpretations of pathogenicity	L_521	Mainland China
39	BRCA1	exon 3	c.14C>T	p.(Ala5Val)	g.43124083G>A	ClinVar LOVD GnomAD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Uncertain significance	L_521	Mainland China
40	BRCA1	exon 3	c.17_18del	p.(Leu6Profs*3)	g.43124079_43124080del	LOVD	.	frameshift deletion	Unclassified	L_384 L_405 L_477	Mainland China
41	BRCA1	exon 3	c.18T>C	p.(=)	g.43124079A>G	LOVD ENIGMA_BRCA12_Functional_Assays	.	synonymous SNV	Unclassified	L_521	Mainland China
42	BRCA1	exon 3	c.19C>T	p.(Arg7Cys)	g.43124078G>A	ClinVar LOVD exLOVD ExAC ESP BIC GnomAD GnomADv3 ENIGMA_BRCA12_Functional_Assays	rs80356994	nonsynonymous SNV	Conflicting interpretations of pathogenicity	L_217 L_303 Nyuwa Qatar_db	Mainland China
43	BRCA1	exon 3	c.28G>A	p.(Glu10Lys)	g.43124069C>T	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Unclassified	L_521 L_86	Mainland China
44	BRCA1	exon 3	c.33A>C	p.(=)	g.43124064T>G	ENIGMA_BRCA12_Functional_Assays	.	synonymous SNV	Unclassified	L_42	Taiwan
45	BRCA1	exon 3	c.34C>T	p.(Gln12*)	g.43124063G>A	ENIGMA 1000_Genomes ClinVar LOVD ExAC BIC GnomAD GnomADv3 ENIGMA_BRCA12_Functional_Assays	rs80357134	stopgain	Pathogenic	L_287 L_295 L_317 L_330 L_374 L_419 L_420 L_435 L_461 L_569 1KG_as CTGA	Mainland China\|Hong Kong
46	BRCA1	exon 3	c.36A>G	p.(=)	g.43124061T>C	ENIGMA ClinVar LOVD ExAC GnomAD ENIGMA_BRCA12_Functional_Assays	rs763230080	synonymous SNV	Likely benign	L_521	Mainland China
47	BRCA1	exon 3	c.37A>T	p.(Asn13Tyr)	g.43124060T>A	LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Unclassified	L_521	Mainland China
48	BRCA1	exon 3	c.40dup	p.(Val14Glyfs*3)	g.43124057dup	.	.	frameshift insertion	Unclassified	L_474 L_480	Mainland China
49	BRCA1	exon 3	c.43A>G	p.(Ile15Val)	g.43124054T>C	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Uncertain significance	L_197 L_404 L_521 L_74 L_94	Mainland China
50	BRCA1	exon 3	c.49G>T	p.(Ala17Ser)	g.43124048C>A	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Uncertain significance	L_521 Chinamap	Mainland China
51	BRCA1	exon 3	c.50C>G	p.(Ala17Gly)	g.43124047G>C	LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Unclassified	L_521 Chinamap	Mainland China
52	BRCA1	exon 3	c.53T>C	p.(Met18Thr)	g.43124044A>G	ENIGMA ClinVar LOVD exLOVD BIC ENIGMA_BRCA12_Functional_Assays	rs80356929	nonsynonymous SNV	Pathogenic	L_435 L_569	Mainland China
53	BRCA1	exon 3	c.57G>C	p.(Gln19His)	g.43124040C>G	LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Unclassified	L_187 L_323	Mainland China
54	BRCA1	exon 3	c.61del	p.(Ile21Serfs*2)	g.43124036del	ENIGMA ClinVar LOVD BIC	rs273902778	frameshift deletion	Pathogenic	L_154 L_317 L_408 L_410 L_419	Hong Kong
55	BRCA1	exon 3	c.62dup	p.(Glu23Argfs*18)	g.43124035dup	ENIGMA ClinVar LOVD	.	frameshift insertion	Pathogenic	L_317 L_368 L_58	Mainland China\|Hong Kong
56	BRCA1	exon 3	c.66dup	p.(Glu23Argfs*18)	g.43124031dup	ENIGMA ClinVar LOVD BIC	.	frameshift insertion	Pathogenic	L_116 L_154 L_205 L_210 L_222 L_227 L_253 L_254 L_299 L_3 L_317 L_330 L_335 L_341 L_358 L_368 L_384 L_39 L_394 L_408 L_410 L_413 L_419 L_420 L_435 L_452 L_474 L_480 L_485 L_489 L_508 L_532 L_539 L_564 L_568 L_569 L_571 L_61 L_72	Mainland China\|Hong Kong\|Taiwan
57	BRCA1	exon 3	c.68dup	p.(Cys24Valfs*17)	g.43124029dup	ENIGMA ClinVar LOVD	.	frameshift insertion	Pathogenic	L_419 L_477	Mainland China
58	BRCA1	exon 3	c.68A>G	p.(Glu23Gly)	g.43124029T>C	LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Unclassified	L_521	Mainland China
59	BRCA1	exon 3	c.68_69del	p.(Glu23Valfs*17)	g.43124028_43124029del	ENIGMA ClinVar LOVD ExAC BIC GnomAD GnomADv3 ENIGMA_BRCA12_Functional_Assays	rs386833395	frameshift deletion	Pathogenic	L_1 L_10 L_109 L_11 L_116 L_117 L_121 L_125 L_135 L_140 L_15 L_150 L_154 L_159 L_169 L_172 L_177 L_179 L_180 L_185 L_186 L_190 L_20 L_210 L_222 L_226 L_231 L_233 L_242 L_249 L_253 L_254 L_260 L_265 L_271 L_273 L_276 L_280 L_281 L_284 L_290 L_296 L_303 L_305 L_31 L_311 L_314 L_317 L_325 L_331 L_332 L_333 L_34 L_340 L_341 L_348 L_353 L_364 L_372 L_377 L_381 L_394 L_398 L_401 L_408 L_410 L_412 L_413 L_419 L_420 L_422 L_430 L_44 L_442 L_444 L_452 L_455 L_457 L_464 L_469 L_476 L_505 L_506 L_509 L_520 L_528 L_529 L_534 L_54 L_551 L_555 L_564 L_566 L_567 L_568 L_57 L_58 L_60 L_61 L_7 L_73 L_75 L_8 L_81 L_86 L_93	Mainland China\|Hong Kong
60	BRCA1	exon 3	c.70T>G	p.(Cys24Gly)	g.43124027A>C	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Uncertain significance	L_382 L_508	Mainland China
61	BRCA1	exon 3	c.70T>C	p.(Cys24Arg)	g.43124027A>G	ClinVar LOVD BIC ENIGMA_BRCA12_Functional_Assays	rs80357410	nonsynonymous SNV	Pathogenic/Likely pathogenic	L_477	Mainland China
62	BRCA1	exon 3	c.71G>A	p.(Cys24Tyr)	g.43124026C>T	ClinVar LOVD BIC ENIGMA_BRCA12_Functional_Assays	rs80357198	nonsynonymous SNV	Conflicting interpretations of pathogenicity	L_289 L_317 L_413 L_440 JPN_db	Hong Kong
63	BRCA1	exon 3	c.74C>T	p.(Pro25Leu)	g.43124023G>A	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	rs876660096	nonsynonymous SNV	Uncertain significance	L_521	Mainland China
64	BRCA1	exon 3	c.75del	p.(Ile26Serfs*5)	g.43124022del	ClinVar LOVD	.	frameshift deletion	Pathogenic	L_521	Mainland China
65	BRCA1	exon 3	c.75C>T	p.(=)	g.43124022G>A	ENIGMA ClinVar LOVD ExAC BIC GnomAD GnomADv3	rs80356839	synonymous SNV	Likely benign	L_523 JPN_db	Macau
66	BRCA1	exon 3	c.80G>A	p.(Cys27Tyr)	g.43124017C>T	ClinVar ENIGMA_BRCA12_Functional_Assays	.	nonsynonymous SNV	Conflicting interpretations of pathogenicity	L_426	Mainland China
67	BRCA1	intron 1	c.80+1G>T	p.(=)	g.43124016C>A	ClinVar LOVD exLOVD BIC ENIGMA_BRCA12_Functional_Assays	rs80358010	.	Pathogenic	L_299 L_317 L_368 L_419 L_561	Mainland China\|Hong Kong
68	BRCA1	intron 1	c.80+1G>A	p.(=)	g.43124016C>T	ClinVar LOVD exLOVD BIC ENIGMA_BRCA12_Functional_Assays	rs80358010	.	Pathogenic/Likely pathogenic	L_368	Mainland China
69	BRCA1	intron 2	c.80+3A>G	p.(=)	g.43124014T>C	LOVD ENIGMA_BRCA12_Functional_Assays	.	.	Unclassified	L_521	Mainland China
70	BRCA1	intron 2	c.80+4A>G	p.(=)	g.43124013T>C	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	.	.	Uncertain significance	L_521	Mainland China
71	BRCA1	intron 2	c.80+5G>A	p.(=)	g.43124012C>T	ClinVar LOVD exLOVD BIC	rs80358045	.	Pathogenic	L_420 L_489	Mainland China
72	BRCA1	intron 2	c.80+7C>T	p.(=)	g.43124010G>A	ClinVar LOVD BIC GnomAD GnomADv3	rs80358098	.	Conflicting interpretations of pathogenicity	L_521	Mainland China
73	BRCA1	intron 2	c.80+8A>T	p.(=)	g.43124009T>A	LOVD	.	.	Unclassified	L_521	Mainland China
74	BRCA1	intron 2	c.80+9G>A	p.(=)	g.43124008C>T	LOVD	.	.	Unclassified	L_521	Mainland China
75	BRCA1	intron 2	c.80+10C>T	p.(=)	g.43124007G>A	LOVD	.	.	Unclassified	L_521	Mainland China
76	BRCA1	intron 2	c.80+12C>T	p.(=)	g.43124005G>A	LOVD	.	.	Unclassified	L_521	Mainland China
77	BRCA1	intron 2	c.80+14A>G	p.(=)	g.43124003T>C	ClinVar LOVD GnomAD	.	.	Likely benign	L_521	Mainland China
78	BRCA1	intron 2	c.80+18T>C	p.(=)	g.43123999A>G	LOVD	.	.	Unclassified	L_521	Mainland China
79	BRCA1	intron 2	c.80+19_80+20del	p.(=)	g.43123997_43123998del	.	.	.	Unclassified	L_488	Mainland China
80	BRCA1	intron 2	c.80+22T>C	p.(=)	g.43123995A>G	LOVD	.	.	Unclassified	L_521	Mainland China
81	BRCA1	intron 2	c.80+23T>C	p.(=)	g.43123994A>G	LOVD GnomAD GnomADv3	.	.	Unclassified	L_521	Mainland China
82	BRCA1	intron 2	c.80+29G>T	p.(=)	g.43123988C>A	1000_Genomes GnomADv3	rs528170710	.	Unclassified	L_523	Macau
83	BRCA1	intron 2	c.80+32A>G	p.(=)	g.43123985T>C	LOVD	.	.	Unclassified	L_521	Mainland China
84	BRCA1	intron 2	c.80+38A>G	p.(=)	g.43123979T>C	LOVD ExAC GnomAD	rs768583394	.	Unclassified	L_521 L_523	Mainland China\|Macau
85	BRCA1	intron 2	c.80+47T>C	p.(=)	g.43123970A>G	LOVD	.	.	Unclassified	L_521	Mainland China
86	BRCA1	intron 2	c.80+48C>A	p.(=)	g.43123969G>T	LOVD	.	.	Unclassified	L_521	Mainland China
87	BRCA1	intron 2	c.80+48C>T	p.(=)	g.43123969G>A	1000_Genomes LOVD ExAC GnomAD GnomADv3	rs200513210	.	Unclassified	L_521 L_523	Mainland China\|Macau
88	BRCA1	intron 2	c.80+51A>T	p.(=)	g.43123966T>A	LOVD	.	.	Unclassified	L_521	Mainland China
89	BRCA1	intron 2	c.80+83_80+84insTCCTGCCAAT	p.(=)	g.43123933_43123934insATTGGCAGGA	.	.	.	Unclassified	L_523	Macau
90	BRCA1	intron 2	c.80+84_80+85insA	p.(=)	g.43123932_43123933insT	.	.	.	Unclassified	L_523	Macau
91	BRCA1	intron 2	c.80+100_80+104del	p.(=)	g.43123913_43123917del	.	.	.	Unclassified	L_523	Macau
92	BRCA1	intron 2	c.81-68A>G	p.(=)	g.43115847T>C	LOVD	.	.	Unclassified	L_521	Mainland China
93	BRCA1	intron 2	c.81-66A>G	p.(=)	g.43115845T>C	LOVD	.	.	Unclassified	L_521	Mainland China
94	BRCA1	intron 2	c.81-55T>A	p.(=)	g.43115834A>T	LOVD	.	.	Unclassified	L_521 L_523	Mainland China\|Macau
95	BRCA1	intron 2	c.81-55_81-54insG	p.(=)	g.43115833_43115834insC	LOVD	.	.	Unclassified	L_133 L_142 L_143 L_144 L_145 L_269	Mainland China
96	BRCA1	intron 2	c.81-55_81-54insTG	p.(=)	g.43115833_43115834insCA	.	.	.	Unclassified	L_133 L_142 L_143 L_144 L_145 L_269	Mainland China
97	BRCA1	intron 2	c.81-16C>A	p.(=)	g.43115795G>T	ClinVar LOVD ENIGMA_BRCA12_Functional_Assays	rs1057520829	.	Likely benign	L_521	Mainland China
98	BRCA1	intron 2	c.81-14C>T	p.(=)	g.43115793G>A	ENIGMA ClinVar LOVD exLOVD ExAC ESP BIC GnomAD GnomADv3 ENIGMA_BRCA12_Functional_Assays	rs80358006	.	Benign	L_523 Qatar_db	Macau
99	BRCA1	intron 2	c.81-12_81-11insC	p.(=)	g.43115790_43115791insG	.	rs273902789	.	Unclassified	Chinamap	Mainland China
100	BRCA1	intron 2	c.81-11del	p.(=)	g.43115790del	ENIGMA ClinVar LOVD exLOVD ExAC BIC GnomAD GnomADv3	rs273902788	.	Benign	JPN_db Nyuwa	Mainland China

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Human Genome Reference Build Hg19 has been used as reference.

HGVS reference sequences for cDNA and protein are as follows:

Reference	BRCA1	BRCA2
HGVS cDNA ID	NM_007294.3	NM_000059.3
HGVS Protein ID	NP_009225.1	NP_000050.2

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