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.140G>A (p.Cys47Tyr)	BRCA1	Pathogenic	17	41258545	41258545	C	T	reviewed by expert panel	ClinGen:CA000951
single nucleotide variant	NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)	BRCA1	Pathogenic/Likely pathogenic	17	41258545	41258545	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000952
single nucleotide variant	NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)	BRCA1	Pathogenic	17	41246127	41246127	A	C	reviewed by expert panel	ClinGen:CA000958
Duplication	NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)	BRCA1	Pathogenic	17	41246108	41246109	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1558&base_change=ins A,ClinGen:CA000962
Deletion	NM_007294.4(BRCA1):c.1444del (p.Ile482fs)	BRCA1	Pathogenic	17	41246104	41246104	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1563&base_change=del A,ClinGen:CA000968
Deletion	NM_007294.4(BRCA1):c.144del (p.Met48fs)	BRCA1	Pathogenic	17	41258541	41258541	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):263&base_change=del G,ClinGen:CA000971
single nucleotide variant	NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)	BRCA1	Pathogenic	17	41246098	41246098	C	A	reviewed by expert panel	ClinGen:CA000973
single nucleotide variant	NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter)	BRCA1	Pathogenic	17	41246083	41246083	C	A	reviewed by expert panel	ClinGen:CA000984
single nucleotide variant	NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)	BRCA1	Pathogenic	17	41246077	41246077	G	A	reviewed by expert panel	ClinGen:CA000988
Deletion	NM_007294.4(BRCA1):c.1483_1498del (p.Glu495fs)	BRCA1	Pathogenic	17	41246050	41246065	TTTGTGAGGGGACGCTC	T	reviewed by expert panel	ClinGen:CA000992