Table 3.

Pathogenic/likely pathogenic germline BRCA2 variants found in our study.

HGVSc Nomenclature	HGVSp Nomenclature	Effect	Exon	Frequency % (n=36)	Tumor type	Mutation type	Reference
8023A>G	Ile2675Val	I2675V	18	16.67% (6)	OC (5), TNBC (1)	missense	ACMG/ClinVar
6024dupG	Gln2009Alafs*9	Q2009Afs*9	11	11.11% (4)	OC (3), BC (HER2- RH+, 1)	inframe insertion	ACMG
9235delG	Val3079Phefs*4	V3079Ffs*4	24	8.33% (3)	OC	inframe deletion	ACMG/ClinVar
1797_1801delTTATA	Tyr600Argfs*14	Y600Rfs*14	10	5.56% (2)	OC (1), TNBC (1)	inframe deletion	ACMG/ClinVar
3001dupT	Ser1001Phefs*8	S1001Ffs*8	11	5.56% (2)	OC	inframe insertion	ACMG/ClinVar
3395_3396delAA	Lys1132Thrfs*11	K1132Tfs*11	11	5.56% (2)	OC (1), TNBC (1)	inframe deletion	ACMG
9253dupA	Thr3085Asnfs*26	T3085Nfs*26	24	5.56% (2)	OC	inframe insertion	ACMG/ClinVar
658_659delGT	Val220Ilefs*4	V220Ifs*4	8	2.78% (1)	OC	inframe deletion	ACMG/ClinVar
1097T>G	Leu366*	L366*	10	2.78% (1)	OC	missense	ACMG/ClinVar
1228A>T	Lys410*	K410*	10	2.78% (1)	OC	missense	ACMG
1310_1313delAAGA	Lys437Ilefs*22	K437Ifs*22	10	2.78% (1)	OC	inframe deletion	ACMG/ClinVar
del exon 10			10	2.78% (1)	OC	deletion variant
2979G>A	Trp993*	W993*	11	2.78% (1)	TNBC	missense	ACMG/ClinVar
5130_5133delTGTA	Tyr1710*	Y1710*	11	2.78% (1)	OC	inframe deletion	ACMG/ClinVar
5200dupG	Glu1734Glyfs*9	E1734Gfs*9	11	2.78% (1)	OC	inframe insertion	ACMG
5303_5304delTT	Leu1768Argfs*5	L1768Rfs*5	11	2.78% (1)	OC	inframe deletion	ACMG/ClinVar
5616delA	Val1873*	V1873*	11	2.78% (1)	TNBC	inframe deletion	ACMG/ClinVar
6450dupA	Val2151Serfs*25	V2151Sfs*25	11	2.78% (1)	OC	inframe insertion	ACMG
8021dupA	Ile2675Aspfs*6	I2675Dfs*6	18	2.78% (1)	BC (HER2- RH+)	inframe insertion	ACMG/ClinVar
8752G>T	Glu2918*	E2918*	21	2.78% (1)	BC (HER2- RH+)	missense	ACMG
9026_9030delATCAT	Tyr3009Serfs*7	Y3009Sfs*7	23	2.78% (1)	OC	inframe deletion	ACMG/ClinVar
9077delA	Gln3026Argfs*2	Q3026Rfs*2	23	2.78% (1)	OC	inframe deletion	ACMG