. 2022 Jun 8;55(1):155–166. doi: 10.4143/crt.2021.1567

Table 2.

gBRCA1/2 mutation profile and consistency with tumor NGS assay

	Blood gBRCA1				Tissue NGS BRCA1					Pathogenicity	Consistency

	REFSEQ	Nucleotide change	AA change	Function	REFSEQ	Nucleotide change	AA change	Function	VAF (%)
*BRCA1*
sample No.
S00500	NM_007294	c.154C>T	L52F	Nonsynonymous SNV	NM_007294	c.154C>T	L52F	Nonsynonymous SNV	60.13	VUS	Consistent

S02550	NM_007294	c.154C>T	L52F	Nonsynonymous SNV	NM_007300	c.154C>T	L52F	Nonsynonymous SNV	49.58	VUS	Consistent

S03566	NM_007294	c.154C>T	L52F	Nonsynonymous SNV	NM_007300	c.154C>T	L52F	Nonsynonymous SNV	44.48	VUS	Consistent

S00292	NM_007294	c.390C>A	Y130X	Stopgain	NM_007294	c.390C>A	Y130*	Stopgain SNV	70.83	Pathologic	Consistent

S00564	NM_007294	c.1397G>A	R466Q	Nonsynonymous SNV	NM_007294	c.1397G>A	R466Q	Nonsynonymous SNV	54.43	VUS	Consistent

S04032	NM_007294	c.1716del	E572fs	Frameshift deletion	NM_007294	c.1716delA	E572fs	Frameshift deletion	38.5	Pathologic	Consistent

S04106	NM_007294	c.2048delA	K683fs	Frameshift deletion	NM_007294	c.2048delA	K683fs	Frameshift deletion	40.37	Pathologic	Consistent

S00231	NM_007294	c.2433delC	N810fs	Frameshift deletion	NM_007294	c.2433delC	N810fs	Frameshift deletion	36.73	Pathologic	Consistent

S04059	NM_007294	c.3228_3229delAG	1076_1077del	Frameshift deletion	NM_007294	c.3228_3229del	G1077Afs*8	Frameshift deletion	37.44	Pathologic	Consistent

S04382	NM_007294	c.3448C>T	P1150S	Nonsynonymous SNV	NM_007300	c.3448C>T	P1150S	Nonsynonymous SNV	50.34	VUS	Consistent

S04231	NM_007294	c.4060_4061del	1354_1354del	Frameshift deletion	NM_007294	c.4060_4061del	N1354*	Frameshift deletion	43.99	Pathologic	Consistent

S03086	NM_007294	c.5074+1G>T		Splicing	NM_007300	c.5137+1G>T		Splicing	78.99	Pathologic	Consistent

S01088	NM_007294	c.509G>A	R170Q	Nonsynonymous SNV	NM_007294	c.509G>A	R170Q	Nonsynonymous SNV	36.54	VUS	Consistent

S00275	NM_007294	c.520C>T	Q174*	Stopgain SNV	NM_007294	c.520C>T	Q174*	Stopgain SNV	82.3	Pathologic	Consistent

S04083	NM_007294	c.5339T>C	L1801P	Nonsynonymous SNV	NM_007300	c.5402T>C	L1801P	Nonsynonymous SNV	58.43	Pathologic	Consistent

S03871	NM_007294	c.5444G>A	W1836*	Stopgain SNV	NM_007300	c.5508G>A	W1836*	Stopgain SNV	70.84	Pathologic	Consistent

S04178	NM_007294	c.5445G>A	W1836*	Stopgain SNV	NM_007300	c.5508G>A	W1836*	Stopgain SNV	65.06	Pathologic	Consistent

S03838	NM_007294	c.5467+1G>A		Splicing	NM_007300	c.5530+1G>A		Splicing	61.34	Pathologic	Consistent

S01005	NM_007294	c.5497_5506del	V1833fs	Frameshift deletion	NM_007294	c.5493_5502del	V1832Efs*8	Frameshift deletion	60.31	Pathologic	Inconsistent

*BRCA2*
sample No.
S00601	NM_000059	c.1399A>T	K467*	Stopgain SNV	NM_000059	c.1399A>T	K467*	Stopgain SNV	43.72	Pathologic	Consistent

S03840	NM_000059	c.1399A>T	K467*	Stopgain SNV	NM_000059	c.1399A>T	K467*	Stopgain SNV	73.55	Pathologic	Consistent

S02371	NM_000059	c.1399A>T	K467*	Stopgain SNV	NM_000059	c.1399A>T	K467*	Stopgain SNV	51.11	Pathologic	Consistent

S03566	NM_000059	c.1399A>T	K467*	Stopgain SNV	NM_000059	c.1399A>T	K467*	Stopgain SNV	71.71	Pathologic	Consistent

S00374	NM_000059	c.2435delA	K811fs	Frameshift deletion	NM_000059	c.2431delA	K811fs	Frameshift deletion	30.93	Pathologic	Consistent

S02987	NM_000059	c.2808_2811del	A938fs	Frameshift deletion	NM_000059	c.2808_2811del	A938fs	Frameshift deletion	46.82	Pathologic	Consistent

S03938	NM_000059	c.353G>A	R118H	Nonsynonymous SNV	NM_000059	c.353G>A	R118H	Nonsynonymous SNV	46.99	Pathologic	Consistent

S03896	NM_000059	c.3744_3747del	S1248fs	Frameshift deletion	NM_000059	c.3744_3747del	S1248fs	Frameshift deletion	60.52	Pathologic	Consistent

S03987	NM_000059	c.5656C>T	Q1886*	Stopgain SNV	NM_000059	c.5656C>T	Q1886*	Stopgain SNV	50	Pathologic	Consistent

S00484	NM_000059	c.6029T>G	V2010G	Nonsynonymous SNV	NM_000059	c.6029T>G	V2010G	Nonsynonymous SNV	49.12	VUS	Consistent

S00215	NM_000059	c.6486_6489delACAA	K2162fs	Frameshift deletion	NM_0000596489delACAA	c.6486_	K2162fs	Frameshift deletion	72.18	Pathologic	Consistent

S04259	NM_000059	c.6875A>C	E2292A	Nonsynonymous SNV	NM_000059	c.8633_8648TATTATATT	substitution	Frameshift	8.37	VUS	Inconsistent

S04084	NM_000059	c.7258G>T	E2420*	Stopgain SNV	NM_000059	c.7258G>T	E2420*	Stopgain SNV	67.92	Pathologic	Consistent

S04378	NM_000059	c.7480C>T	R2494*	Stopgain SNV	NM_000059	c.7480C>T	R2494*	Stopgain SNV	58.44	Pathologic	Consistent

S04288	NM_000059	c.7706G>T	G2569V	Nonsynonymous SNV	NM_000059	c.7706G>T	G2569V	Nonsynonymous SNV	70.72	VUS	Consistent

S03872	NM_000059	c.8023A>G	I2675V	Nonsynonymous SNV	NM_000059	c.8023A>G	I2675V	Nonsynonymous SNV	47.99	Pathologic	Consistent

AA, amino acid; NGS, next-generation sequencing; REFSEQ, reference sequence; SNV, single-nucleotide variant; VAF, variant allele frequency; VUS, variant of unknown significance.