遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_000059.4(BRCA2):c.2842dup (p.Val948fs)	BRCA2	Pathogenic	13	32911332	32911333	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3070&base_change=ins G,ClinGen:CA016597
Deletion	NM_000059.4(BRCA2):c.2930_2940del (p.Ser976_Leu977insTer)	BRCA2	Pathogenic	13	32911421	32911431	CTTGAATATAGA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3158&base_change=del 11,ClinGen:CA016825
single nucleotide variant	NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter)	BRCA2	Pathogenic	13	32911470	32911470	G	A	reviewed by expert panel	ClinGen:CA016937
Duplication	NM_000059.4(BRCA2):c.106dup (p.Ser36fs)	BRCA2	Pathogenic	13	32893249	32893250	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):334&base_change=ins T,ClinGen:CA010719
single nucleotide variant	NM_000059.4(BRCA2):c.3362C>A (p.Ser1121Ter)	BRCA2	Pathogenic	13	32911854	32911854	C	A	reviewed by expert panel	ClinGen:CA017863
Insertion	NM_000059.3(BRCA2):c.3407_3408ins100 (p.?)	BRCA2	Pathogenic	13	32911899	32911900	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):3635&base_change=ins 100
Deletion	NM_000059.4(BRCA2):c.3458del (p.Lys1153fs)	BRCA2	Pathogenic	13	32911948	32911948	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3686&base_change=del A,ClinGen:CA018110
Insertion	NM_000059.3(BRCA2):c.156_157insAlu	BRCA2	Pathogenic	13	32893302	32893303	na	na	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):384&base_change=ins Alu
Insertion	NM_000059.4(BRCA2):c.4006_4007insA (p.Phe1336fs)	BRCA2	Pathogenic	13	32912498	32912499	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4234&base_change=ins A,ClinGen:CA019385
Insertion	NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)	BRCA2	Pathogenic	13	32912500	32912501	T	TCATC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4236&base_change=ins CATC,ClinGen:CA019388