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.3del (p.Met1fs)	BRCA2	Pathogenic	13	32890600	32890600	TG	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):231&base_change=del G,ClinGen:CA019358
single nucleotide variant	NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)	BRCA2	Pathogenic	13	32890600	32890600	G	A	reviewed by expert panel	ClinGen:CA019362
Deletion	NM_000059.4(BRCA2):c.5del (p.Pro2fs)	BRCA2	Pathogenic	13	32890601	32890601	GC	G	reviewed by expert panel	ClinGen:CA023497
Duplication	NM_000059.4(BRCA2):c.7dup (p.Ile3fs)	BRCA2	Pathogenic	13	32890603	32890604	T	TA	criteria provided, single submitter	ClinGen:CA658656319
single nucleotide variant	NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)	BRCA2	Pathogenic	13	32890607	32890607	G	T	reviewed by expert panel	ClinGen:CA010813
Deletion	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2	Pathogenic	13	32890611	32890611	TC	T	reviewed by expert panel	ClinGen:CA16619631
Deletion	NM_000059.4(BRCA2):c.17_18del (p.Lys6fs)	BRCA2	Pathogenic	13	32890613	32890614	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):245&base_change=del AA,ClinGen:CA012987
Deletion	NM_000059.4(BRCA2):c.26del (p.Pro9fs)	BRCA2	Pathogenic	13	32890623	32890623	GC	G	reviewed by expert panel	ClinGen:CA016104,Breast Cancer Information Core (BIC) (BRCA2):254&base_change=del C
Duplication	NM_000059.4(BRCA2):c.36dup (p.Glu13Ter)	BRCA2	Pathogenic	13	32890627	32890628	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):264&base_change=ins T,ClinGen:CA018441
Deletion	NM_000059.4(BRCA2):c.36del (p.Phe12fs)	BRCA2	Pathogenic	13	32890628	32890628	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):264&base_change=del T,ClinGen:CA018602