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.5150del (p.Phe1717fs)	BRCA1	Pathogenic	17	41215893	41215893	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5269&base_change=del T,ClinGen:CA003275
single nucleotide variant	NM_007294.4(BRCA1):c.5152+1G>T	BRCA1	Pathogenic	17	41215890	41215890	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5271+1&base_change=G to T,BRCA1-HCI:BRCA1_00142,ClinGen:CA003281
Duplication	NM_007294.4(BRCA1):c.5152+2dup	BRCA1	Pathogenic	17	41215888	41215889	T	TA	criteria provided, single submitter	ClinGen:CA003283
single nucleotide variant	NM_007294.4(BRCA1):c.5152+4A>G	BRCA1	Likely pathogenic	17	41215887	41215887	T	C	criteria provided, single submitter	ClinGen:CA003287
single nucleotide variant	NM_007294.4(BRCA1):c.5152+5G>A	BRCA1	Pathogenic/Likely pathogenic	17	41215886	41215886	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5271+5&base_change=G to A,ClinGen:CA003288
single nucleotide variant	NM_007294.4(BRCA1):c.5153-1G>A	BRCA1	Pathogenic	17	41215391	41215391	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5272-1&base_change=G to A,ClinGen:CA003295
single nucleotide variant	NM_007294.4(BRCA1):c.5153-1G>T	BRCA1	Pathogenic	17	41215391	41215391	C	A	criteria provided, single submitter	ClinGen:CA003298
Deletion	NM_007294.4(BRCA1):c.5153-2del	BRCA1	Pathogenic	17	41215392	41215392	CT	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5272-2&base_change=del A,ClinGen:CA003301
single nucleotide variant	NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter)	BRCA1	Pathogenic	17	41215390	41215390	C	T	reviewed by expert panel	ClinGen:CA003304
single nucleotide variant	NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)	BRCA1	Pathogenic	17	41215389	41215389	C	T	reviewed by expert panel	ClinGen:CA003306