Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer

Table 1 BRCA1 and BRCA2 mutations and unclassified variants

Variant	Exon	BIC Nomenclature	BIC entries^a	Type	Protein	Clinical significance	BRCA exchange^a
NM_007294.3 (BRCA1):c.116G > A	3	235G > A	5	Missense	NP_009225.1:p.Cys39Tyr	Likely Pathogenic	Not yet reviewed
NM_007294.3(BRCA1):c.2125_2126insA	11	2244insA	2	Frameshift	NP_009225.1:p.Phe709Tyrfs	Pathogenic	Pathogenic
NM_007294.3 (BRCA1):c.798_799del	11	917_918del	28	Frameshift	NP_009225.1:p.Ser267Lysfs	Pathogenic	Pathogenic
NM_000059.3 (BRCA2): c.289G > T	3	516G > T	0	Nonsense	NP_000050.2:p.Glu97Ter	Pathogenic	Pathogenic
NM_000059.3(BRCA2):c.5116_5119delAATA	11	5344delAATA	1	Frameshift	NP_000050.2:p.Asn1706Leufs	Pathogenic	Pathogenic
NM_000059.3(BRCA2):c.4090A > G	11	4317A > G	0	Missense	NP_000050.2:p.Ile1364Val	VUS	Not Yet Reviewed
NM_000059.3(BRCA2):c.6322C > T	11	6549C > T	22	Missense	NP_000050.2:p.Arg2108Cys	Conflicting interpretations of pathogenicity	Not Yet Reviewed

^a: Accessed 06/08/2019. Abbreviations: VUS Variants of Unknown Significance

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