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.4158_4162del (p.Ser1387fs)	BRCA1	Pathogenic	17	41242984	41242988	TGAGAG	T	reviewed by expert panel	ClinGen:CA002659
single nucleotide variant	NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter)	BRCA1	Pathogenic	17	41256165	41256165	G	A	reviewed by expert panel	ClinGen:CA002660
Deletion	NM_007294.4(BRCA1):c.4163_4166del (p.Gln1388fs)	BRCA1	Pathogenic	17	41242980	41242983	ACTCT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4282&base_change=del AGAG,ClinGen:CA002663
Deletion	NM_007294.4(BRCA1):c.4167_4168del (p.Ser1389fs)	BRCA1	Pathogenic	17	41242978	41242979	TCA	T	reviewed by expert panel	ClinGen:CA002666
Deletion	NM_007294.4(BRCA1):c.4167_4170del (p.Ser1389fs)	BRCA1	Pathogenic	17	41242976	41242979	TGTCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4286&base_change=del TGAC,ClinGen:CA002668
Deletion	NM_007294.4(BRCA1):c.4167del (p.Ser1389fs)	BRCA1	Pathogenic	17	41242979	41242979	CA	C	reviewed by expert panel	ClinGen:CA002669
Duplication	NM_007294.4(BRCA1):c.4182_4183dup (p.Gln1395fs)	BRCA1	Pathogenic	17	41242962	41242963	T	TGA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4302&base_change=ins TC,ClinGen:CA002674
single nucleotide variant	NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	BRCA1	Pathogenic	17	41242963	41242963	G	A	reviewed by expert panel	ClinGen:CA002677
single nucleotide variant	NM_007294.4(BRCA1):c.4185+1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41242960	41242960	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4304+1&base_change=G to T,ClinGen:CA002684
single nucleotide variant	NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)	BRCA1	Pathogenic	17	41242961	41242961	C	T	reviewed by expert panel	ClinGen:CA002692