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_000059.4(BRCA2):c.5724del (p.Asp1909fs)	BRCA2	Pathogenic	13	32914216	32914216	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5952&base_change=del A,ClinGen:CA023054
Indel	NM_000059.4(BRCA2):c.572delinsCT (p.Asp191fs)	BRCA2	Pathogenic	13	32900691	32900691	A	CT	reviewed by expert panel	ClinGen:CA325901
single nucleotide variant	NM_000059.4(BRCA2):c.5734G>T (p.Glu1912Ter)	BRCA2	Pathogenic	13	32914226	32914226	G	T	reviewed by expert panel	ClinGen:CA023098
single nucleotide variant	NM_000059.4(BRCA2):c.5739T>A (p.Cys1913Ter)	BRCA2	Pathogenic	13	32914231	32914231	T	A	reviewed by expert panel	ClinGen:CA023111
Duplication	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2	Pathogenic	13	32900692	32900693	T	TA	reviewed by expert panel	ClinGen:CA023141
Deletion	NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs)	BRCA2	Pathogenic	13	32914245	32914246	CAT	C	reviewed by expert panel	ClinGen:CA023161
Duplication	NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)	BRCA2	Pathogenic	13	32914250	32914251	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5991&base_change=ins T,ClinGen:CA023171
Deletion	NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs)	BRCA2	Pathogenic	13	32914261	32914264	ACATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5999&base_change=del TTCA,ClinGen:CA023197
single nucleotide variant	NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)	BRCA2	Pathogenic	13	32914265	32914265	C	T	reviewed by expert panel	ClinGen:CA023205
Deletion	NM_000059.4(BRCA2):c.5774_5777del (p.Gln1925fs)	BRCA2	Pathogenic	13	32914266	32914269	CAGAG	C	reviewed by expert panel	ClinGen:CA023208