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.4335_4338dup (p.Gln1447fs)	BRCA1	Pathogenic	17	41234439	41234440	G	GTTCT	reviewed by expert panel	ClinGen:CA198447
single nucleotide variant	NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)	BRCA1	Pathogenic	17	41234439	41234439	G	A	reviewed by expert panel	ClinGen:CA002775
single nucleotide variant	NM_007294.4(BRCA1):c.4357+1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41234420	41234420	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4476+1&base_change=G to C,ClinGen:CA002789
single nucleotide variant	NM_007294.4(BRCA1):c.4357+1G>T	BRCA1	Pathogenic	17	41234420	41234420	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4476+1&base_change=G to T,ClinGen:CA002790
Deletion	NM_007294.4(BRCA1):c.4357+1del	BRCA1	Pathogenic/Likely pathogenic	17	41234420	41234420	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA002786
single nucleotide variant	NM_007294.4(BRCA1):c.4357+2T>C	BRCA1	Pathogenic	17	41234419	41234419	A	G	criteria provided, single submitter	ClinGen:CA002791
single nucleotide variant	NM_007294.4(BRCA1):c.4370C>G (p.Ser1457Ter)	BRCA1	Pathogenic	17	41228619	41228619	G	C	reviewed by expert panel	ClinGen:CA002802
single nucleotide variant	NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)	BRCA1	Pathogenic	17	41228617	41228617	G	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4491&base_change=C to T,ClinGen:CA002803
Deletion	NM_007294.4(BRCA1):c.4373_4389del (p.Gln1458fs)	BRCA1	Pathogenic	17	41228600	41228616	GGTATTCACTACTTTTCT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4491&base_change=del 17,ClinGen:CA002804
single nucleotide variant	NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)	BRCA1	Pathogenic	17	41228600	41228600	G	T	reviewed by expert panel	ClinGen:CA002813