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_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro)	BRCA1	Pathogenic/Likely pathogenic	17	41215929	41215929	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003248
single nucleotide variant	NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)	BRCA1	Pathogenic	17	41215926	41215926	C	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00048,ClinGen:CA003249,UniProtKB:P38398#VAR_063905
single nucleotide variant	NM_007294.4(BRCA1):c.5152+1G>C	BRCA1	Pathogenic	17	41215890	41215890	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5271+1&base_change=G to C,ClinGen:CA003280
single nucleotide variant	NM_007294.4(BRCA1):c.5153-1G>C	BRCA1	Pathogenic	17	41215391	41215391	C	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00144,ClinGen:CA003297,Breast Cancer Information Core (BIC) (BRCA1):5272-1&base_change=G to C
single nucleotide variant	NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)	BRCA1	Pathogenic	17	41215364	41215364	T	A	reviewed by expert panel	ClinGen:CA003327
single nucleotide variant	NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)	BRCA1	Pathogenic	17	41215352	41215352	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591159
single nucleotide variant	NM_007294.4(BRCA1):c.5194-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41209154	41209154	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5313-2&base_change=A to G,ClinGen:CA003347
single nucleotide variant	NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	BRCA1	Pathogenic	17	41209139	41209139	A	G	reviewed by expert panel	ClinGen:CA003357,UniProtKB:P38398#VAR_070506,OMIM:113705.0038
Deletion	NM_007294.4(BRCA1):c.5259del (p.Glu1754fs)	BRCA1	Pathogenic	17	41209087	41209087	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5378&base_change=del A,ClinGen:CA003400
single nucleotide variant	NM_007294.4(BRCA1):c.5277+1G>A	BRCA1	Pathogenic	17	41209068	41209068	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5396+1&base_change=G to A,BRCA1-HCI:BRCA1_00146,ClinGen:CA003419