Table 1.

BRCA2 somatic variants of the patient 1.

Gene	Location	Chromosome	Genomic position (hg19)	complementary DNA (cDNA) (NM_00059)	Protein (NP_000050)	VAF	Depth	The Single Nucleotide Polymorphism Database (dbSNP)	ClinVar	Varsome
BRCA2	exon 10	chr13	32906480	c.865A>C	p.(Asn289His)	0.013	2001	rs766173	Benign	Benign
BRCA2	exon 11	chr13	32911300	c.2808_2811del	p.(Ala938ProfsTer21)	0.75	1975	rs80359351	Pathogenic	Pathogenic
BRCA2	exon 11	chr13	32911888	c.3396A>G	p.(Lys1132=)	0.18	2672	rs1801406	Benign	Benign
BRCA2	exon 11	chr13	32912560	c.4068G>A	p.(Leu1356=)	0.23	2530	rs28897724	Benign	Benign
BRCA2	exon 11	chr13	32913055	c.4563A>G	p.(Leu1521=)	0.99	3924	rs206075	Benign	Benign
BRCA2	exon 11	chr13	32915005	c.6513G>C	p.(Val2171=)	1.00	2821	rs206076	Benign	Benign
BRCA2	exon 14	chr13	32929387	c.7397T>C	p.(Val2466Ala)	1.00	1918	rs169547	Benign	Benign
BRCA2	intron 16	chr13	32936646	c.7806-14T>C	–	0.76	1662	rs9534262	Benign	Benign

VAF, variant allele frequency.