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_007294.4(BRCA1):c.1759del (p.Pro586_Ile587insTer)	BRCA1	Pathogenic	17	41245789	41245789	AT	A	reviewed by expert panel	ClinGen:CA001149
Deletion	NM_007294.4(BRCA1):c.1875del (p.Leu625_Val626insTer)	BRCA1	Pathogenic	17	41245673	41245673	CT	C	reviewed by expert panel	ClinGen:CA001218
Deletion	NM_007294.4(BRCA1):c.1921del (p.Ile641fs)	BRCA1	Pathogenic	17	41245627	41245627	AT	A	reviewed by expert panel	ClinGen:CA001268
Deletion	NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)	BRCA1	Pathogenic	17	41245477	41245478	CTT	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):2189&base_change=del AA,ClinGen:CA001370
Deletion	NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)	BRCA1	Pathogenic	17	41245416	41245417	CTT	C	reviewed by expert panel	ClinGen:CA001425
Deletion	NM_007294.4(BRCA1):c.2199del (p.Lys734fs)	BRCA1	Pathogenic	17	41245349	41245349	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2318&base_change=del G,ClinGen:CA001469
Duplication	NM_007294.4(BRCA1):c.2386dup (p.Thr796fs)	BRCA1	Pathogenic	17	41245161	41245162	G	GT	reviewed by expert panel	ClinGen:CA001582
Deletion	NM_007294.4(BRCA1):c.241_251del (p.Gln81fs)	BRCA1	Pathogenic	17	41256935	41256945	TTCAACAAGTTG	T	reviewed by expert panel	ClinGen:CA001606
Insertion	NM_007294.3(BRCA1):c.2504_2505ins17 (p.?)	BRCA1	Pathogenic	17	41245043	41245044	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):2623&base_change=ins 17
single nucleotide variant	NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)	BRCA1	Pathogenic	17	41256936	41256936	C	A	reviewed by expert panel	ClinGen:CA001662