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.67+1G>T	BRCA2	Pathogenic	13	32890665	32890665	G	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):295+1&base_change=G to T,ClinGen:CA024336
single nucleotide variant	NM_000059.4(BRCA2):c.67+2T>C	BRCA2	Pathogenic	13	32890666	32890666	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):295+2&base_change=T to C,ClinGen:CA024346
single nucleotide variant	NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)	BRCA2	Pathogenic	13	32915207	32915207	G	T	reviewed by expert panel	ClinGen:CA024321
Deletion	NM_000059.4(BRCA2):c.6732del (p.Lys2244fs)	BRCA2	Pathogenic	13	32915222	32915222	TA	T	reviewed by expert panel	ClinGen:CA024348
Deletion	NM_000059.4(BRCA2):c.673_676del (p.Thr225fs)	BRCA2	Pathogenic	13	32903621	32903624	TACTA	T	reviewed by expert panel	ClinGen:CA024352
Deletion	NM_000059.4(BRCA2):c.6743_6755del (p.His2248fs)	BRCA2	Pathogenic	13	32915233	32915245	GTCATGCCACACAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6971&base_change=del 13,ClinGen:CA024365
Duplication	NM_000059.4(BRCA2):c.6754dup (p.Ser2252fs)	BRCA2	Pathogenic	13	32915244	32915245	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6982&base_change=dup T,ClinGen:CA024377
Deletion	NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs)	BRCA2	Pathogenic	13	32915250	32915251	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6989&base_change=del TT,ClinGen:CA024383
single nucleotide variant	NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)	BRCA2	Pathogenic	13	32915260	32915260	T	A	reviewed by expert panel	ClinGen:CA024394
single nucleotide variant	NM_000059.4(BRCA2):c.67G>T (p.Asp23Tyr)	BRCA2	Pathogenic/Likely pathogenic	13	32890664	32890664	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024413