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
Deletion	NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer)	BRCA2	Pathogenic	13	32911945	32911945	TC	T	reviewed by expert panel	ClinGen:CA018090
single nucleotide variant	NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)	BRCA2	Pathogenic	13	32911947	32911947	T	G	reviewed by expert panel	ClinGen:CA018097
Deletion	NM_000059.4(BRCA2):c.3465_3466del (p.Thr1155_Ser1156insTer)	BRCA2	Pathogenic	13	32911957	32911958	CTT	C	reviewed by expert panel	ClinGen:CA018127
single nucleotide variant	NM_000059.4(BRCA2):c.3469G>T (p.Glu1157Ter)	BRCA2	Pathogenic	13	32911961	32911961	G	T	reviewed by expert panel	ClinGen:CA018132
Deletion	NM_000059.4(BRCA2):c.3487del (p.Asp1163fs)	BRCA2	Pathogenic	13	32911979	32911979	TG	T	reviewed by expert panel	ClinGen:CA018156
Deletion	NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)	BRCA2	Pathogenic	13	32911991	32911992	CAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3728&base_change=del TA,ClinGen:CA018202
Deletion	NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs)	BRCA2	Pathogenic	13	32912023	32912026	ACAGC	A	reviewed by expert panel	ClinGen:CA018270
Deletion	NM_000059.4(BRCA2):c.3554_3555del (p.Thr1185fs)	BRCA2	Pathogenic	13	32912045	32912046	TAC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3782&base_change=del CA,ClinGen:CA018315
Deletion	NM_000059.4(BRCA2):c.3554_3563del (p.Thr1185fs)	BRCA2	Pathogenic	13	32912046	32912055	ACAGTTGAAAT	A	reviewed by expert panel	ClinGen:CA018321
Deletion	NM_000059.4(BRCA2):c.3556_3565del (p.Val1186fs)	BRCA2	Pathogenic	13	32912047	32912056	CAGTTGAAATT	C	reviewed by expert panel	ClinGen:CA018331