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.5129del (p.Gly1710fs)	BRCA1	Pathogenic	17	41215914	41215914	TC	T	reviewed by expert panel	ClinGen:CA500146168
single nucleotide variant	NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)	BRCA2	Pathogenic/Likely pathogenic	13	32890599	32890599	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752876
single nucleotide variant	NM_000059.4(BRCA2):c.67+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32890666	32890666	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387753128
Deletion	NM_000059.4(BRCA2):c.495del (p.His166fs)	BRCA2	Pathogenic	13	32900396	32900396	GT	G	reviewed by expert panel	ClinGen:CA645372978
Deletion	NM_000059.4(BRCA2):c.1332_1333del (p.Ser445fs)	BRCA2	Pathogenic	13	32906947	32906948	ATT	A	reviewed by expert panel	ClinGen:CA645372945
single nucleotide variant	NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter)	BRCA2	Pathogenic	13	32907273	32907273	T	G	reviewed by expert panel	ClinGen:CA387765024
Deletion	NM_000059.4(BRCA2):c.3096del (p.Asp1033fs)	BRCA2	Pathogenic	13	32911586	32911586	CA	C	reviewed by expert panel	ClinGen:CA645372952
Deletion	NM_000059.4(BRCA2):c.3222_3225del (p.Ser1074fs)	BRCA2	Pathogenic	13	32911714	32911717	GTAGT	G	reviewed by expert panel	ClinGen:CA645372953
Deletion	NM_000059.4(BRCA2):c.3344del (p.Ser1115fs)	BRCA2	Pathogenic	13	32911836	32911836	TC	T	reviewed by expert panel	ClinGen:CA645372955
single nucleotide variant	NM_000059.4(BRCA2):c.4022C>A (p.Ser1341Ter)	BRCA2	Pathogenic	13	32912514	32912514	C	A	reviewed by expert panel	ClinGen:CA387779046