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.658_659del (p.Val220fs)	BRCA2	Pathogenic	13	32903605	32903606	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):886&base_change=del GT,ClinGen:CA024188,OMIM:600185.0027
single nucleotide variant	NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)	BRCA2	Pathogenic	13	32937558	32937558	T	A	reviewed by expert panel	ClinGen:CA025524,OMIM:600185.0028
single nucleotide variant	NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)	BRCA2	Pathogenic	13	32913140	32913140	G	T	reviewed by expert panel	ClinGen:CA020587,OMIM:600185.0029
single nucleotide variant	NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)	BRCA2	Pathogenic	13	32930658	32930658	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025134,OMIM:600185.0030
single nucleotide variant	NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)	BRCA2	Pathogenic	13	32914137	32914137	C	G	reviewed by expert panel	ClinGen:CA022825,OMIM:600185.0031
single nucleotide variant	NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	BRCA2	Pathogenic	13	32954222	32954222	C	T	reviewed by expert panel	ClinGen:CA026028,OMIM:600185.0032
single nucleotide variant	NM_000059.4(BRCA2):c.631+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32900751	32900751	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):859+1&base_change=G to A,ClinGen:CA023848,OMIM:600185.0033
single nucleotide variant	NM_000059.4(BRCA2):c.631+2T>G	BRCA2	Pathogenic	13	32900752	32900752	T	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):859+2&base_change=T to G,ClinGen:CA023852,OMIM:600185.0034
single nucleotide variant	NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	BRCA1	Pathogenic	17	41258495	41258495	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001250,UniProtKB:P38398#VAR_007758,OMIM:113705.0001
single nucleotide variant	NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	BRCA1	Pathogenic	17	41258504	41258504	A	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00099,ClinGen:CA001182,UniProtKB:P38398#VAR_007757,OMIM:113705.0002