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_000059.4(BRCA2):c.5564C>A (p.Ser1855Ter)	BRCA2	Pathogenic	13	32914056	32914056	C	A	reviewed by expert panel	ClinGen:CA10586542
Deletion	NM_000059.4(BRCA2):c.5604_5605del (p.Asp1868fs)	BRCA2	Pathogenic	13	32914095	32914096	GAC	G	reviewed by expert panel	ClinGen:CA6940889
Deletion	NM_000059.4(BRCA2):c.5644_5647del (p.Ser1882fs)	BRCA2	Pathogenic	13	32914134	32914137	AAATC	A	reviewed by expert panel	ClinGen:CA022803
Duplication	NM_000059.4(BRCA2):c.5655_5656dup (p.Gln1886fs)	BRCA2	Pathogenic	13	32914146	32914147	G	GCC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5883&base_change=ins CC,ClinGen:CA022865
Deletion	NM_000059.4(BRCA2):c.5778del (p.Ser1926fs)	BRCA2	Pathogenic	13	32914270	32914270	GT	G	reviewed by expert panel	ClinGen:CA10586543
single nucleotide variant	NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter)	BRCA2	Pathogenic	13	32914271	32914271	G	T	reviewed by expert panel	ClinGen:CA10586544
Deletion	NM_000059.4(BRCA2):c.5891del (p.Lys1964fs)	BRCA2	Pathogenic	13	32914382	32914382	GA	G	reviewed by expert panel	ClinGen:CA023338,Breast Cancer Information Core (BIC) (BRCA2):6118&base_change=del A
Insertion	NM_000059.4(BRCA2):c.5935_5936insT (p.Ser1979fs)	BRCA2	Pathogenic	13	32914427	32914428	A	AT	reviewed by expert panel	ClinGen:CA10586545
single nucleotide variant	NM_000059.4(BRCA2):c.5966C>A (p.Ser1989Ter)	BRCA2	Pathogenic	13	32914458	32914458	C	A	reviewed by expert panel	ClinGen:CA10586546
Deletion	NM_000059.4(BRCA2):c.5969del (p.Asp1990fs)	BRCA2	Pathogenic	13	32914461	32914461	GA	G	reviewed by expert panel	ClinGen:CA10586547