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
single nucleotide variant	NM_000059.4(BRCA2):c.7617+1G>A	BRCA2	Pathogenic	13	32930747	32930747	G	A	reviewed by expert panel	ClinGen:CA025182
single nucleotide variant	NM_000059.4(BRCA2):c.7617+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32930747	32930747	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025183
single nucleotide variant	NM_000059.4(BRCA2):c.7617+2T>G	BRCA2	Pathogenic	13	32930748	32930748	T	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7845+2&base_change=T to G,ClinGen:CA025184
Deletion	NM_000059.4(BRCA2):c.7636_7645del (p.Ser2546fs)	BRCA2	Pathogenic	13	32931895	32931904	GTTTCTAAACA	G	reviewed by expert panel	ClinGen:CA025203
single nucleotide variant	NM_000059.4(BRCA2):c.7647C>A (p.Cys2549Ter)	BRCA2	Pathogenic	13	32931908	32931908	C	A	reviewed by expert panel	ClinGen:CA025210
Deletion	NM_000059.4(BRCA2):c.7655_7658del (p.Ile2552fs)	BRCA2	Pathogenic	13	32931914	32931917	AAATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7883&base_change=del TTAA,ClinGen:CA025214
Deletion	NM_000059.4(BRCA2):c.7671del (p.Glu2558fs)	BRCA2	Pathogenic	13	32931932	32931932	CA	C	reviewed by expert panel	ClinGen:CA025216
Deletion	NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs)	BRCA2	Pathogenic	13	32931938	32931939	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7907&base_change=del TT,ClinGen:CA025223
Deletion	NM_000059.4(BRCA2):c.767del (p.Thr256fs)	BRCA2	Pathogenic	13	32905141	32905141	AC	A	reviewed by expert panel	ClinGen:CA025224
Deletion	NM_000059.4(BRCA2):c.7680del (p.Gln2561fs)	BRCA2	Pathogenic	13	32931938	32931938	CT	C	reviewed by expert panel	ClinGen:CA025226