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_000059.4(BRCA2):c.1321dup (p.Thr441fs)	BRCA2	Pathogenic	13	32906935	32906936	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1549&base_change=ins A,ClinGen:CA011591
single nucleotide variant	NM_000059.4(BRCA2):c.1325C>A (p.Ser442Ter)	BRCA2	Pathogenic	13	32906940	32906940	C	A	reviewed by expert panel	ClinGen:CA011601
Deletion	NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)	BRCA2	Pathogenic	13	32911322	32911323	TAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3062&base_change=del AA,ClinGen:CA016544
Deletion	NM_000059.4(BRCA2):c.2835del (p.Asp946fs)	BRCA2	Pathogenic	13	32911322	32911322	TA	T	reviewed by expert panel	ClinGen:CA016557
Indel	NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)	BRCA2	Pathogenic/Likely pathogenic	13	32907432	32907434	CGA	TTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA013422
Indel	NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)	BRCA2	Pathogenic	13	32911567	32911568	GA	TT	reviewed by expert panel	ClinGen:CA017179
Deletion	NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)	BRCA2	Pathogenic	13	32913687	32913687	CT	C	reviewed by expert panel	ClinGen:CA021647
Duplication	NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs)	BRCA2	Pathogenic	13	32913854	32913855	T	TC	reviewed by expert panel	ClinGen:CA022147
Deletion	NM_007294.3(BRCA1):c.135-?_441+?del	BRCA1	Pathogenic	17	41256139	41258550	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.4186-?_4675+?del	BRCA1	Pathogenic	17	41226348	41234592	na	na	criteria provided, multiple submitters, no conflicts	-