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
Duplication	NM_007294.4(BRCA1):c.1700dup (p.Asn567fs)	BRCA1	Pathogenic	17	41245847	41245848	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1819&base_change=ins A,ClinGen:CA001112
Insertion	NM_007294.4(BRCA1):c.70_71insA (p.Cys24Ter)	BRCA1	Pathogenic	17	41276043	41276044	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins A,ClinGen:CA003824
Insertion	NM_007294.4(BRCA1):c.70_71insTGTC (p.Cys24fs)	BRCA1	Pathogenic	17	41276043	41276044	C	CGACA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins TGTC,ClinGen:CA003825
Deletion	NM_007294.4(BRCA1):c.1812del (p.Ala605fs)	BRCA1	Pathogenic	17	41245736	41245736	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1931&base_change=del A,ClinGen:CA001175
single nucleotide variant	NM_007294.4(BRCA1):c.80+1G>C	BRCA1	Pathogenic	17	41276033	41276033	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+1&base_change=G to C,ClinGen:CA003885
single nucleotide variant	NM_007294.4(BRCA1):c.80+1G>T	BRCA1	Pathogenic	17	41276033	41276033	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+1&base_change=G to T,ClinGen:CA003886
single nucleotide variant	NM_007294.4(BRCA1):c.80+2T>G	BRCA1	Pathogenic	17	41276032	41276032	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+2&base_change=T to G,ClinGen:CA003887
single nucleotide variant	NM_007294.4(BRCA1):c.80+5G>A	BRCA1	Pathogenic	17	41276029	41276029	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+5&base_change=G to A,ClinGen:CA003889
Insertion	NM_007294.4(BRCA1):c.1893_1894insT (p.Ser632Ter)	BRCA1	Pathogenic	17	41245654	41245655	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2012&base_change=ins T,ClinGen:CA001231
Insertion	NM_007294.4(BRCA1):c.2038_2039insCC (p.Lys680fs)	BRCA1	Pathogenic	17	41245509	41245510	T	TGG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2157&base_change=ins CC,ClinGen:CA001354