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
Insertion	NM_007294.4(BRCA1):c.4696_4697insA (p.Ser1566fs)	BRCA1	Pathogenic	17	41223234	41223235	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4815&base_change=ins A,ClinGen:CA002981
Deletion	NM_007294.4(BRCA1):c.4764_4765del (p.Arg1589fs)	BRCA1	Pathogenic	17	41223166	41223167	CGA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4883&base_change=del TC,ClinGen:CA003009
Duplication	NM_007294.4(BRCA1):c.4843dup (p.Ala1615fs)	BRCA1	Pathogenic	17	41223087	41223088	G	GC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4962&base_change=ins G,ClinGen:CA003049
Duplication	NM_007294.4(BRCA1):c.4891dup (p.Ser1631fs)	BRCA1	Pathogenic	17	41223039	41223040	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5010&base_change=ins A,ClinGen:CA003065
Deletion	NM_007294.4(BRCA1):c.4944_4945del (p.Arg1649fs)	BRCA1	Pathogenic	17	41222986	41222987	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5063&base_change=del AA,ClinGen:CA003095
single nucleotide variant	NM_007294.4(BRCA1):c.4986+1G>A	BRCA1	Pathogenic	17	41222944	41222944	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+1&base_change=G to A,ClinGen:CA003118
Insertion	NM_007294.3(BRCA1):c.5033_5034ins4	BRCA1	Pathogenic	17	41219665	41219666	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):5152&base_change=ins 4
Duplication	NM_007294.4(BRCA1):c.5056dup (p.His1686fs)	BRCA1	Pathogenic	17	41219642	41219643	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5175&base_change=ins C,ClinGen:CA003176
single nucleotide variant	NM_007294.4(BRCA1):c.5075-1G>C	BRCA1	Pathogenic	17	41215969	41215969	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5194-1&base_change=G to C,ClinGen:CA003205
Deletion	NM_007294.4(BRCA1):c.5098del (p.Thr1700fs)	BRCA1	Pathogenic	17	41215945	41215945	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5217&base_change=del A,ClinGen:CA003239