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.6091dup (p.Thr2031fs)	BRCA2	Pathogenic	13	32914582	32914583	T	TA	reviewed by expert panel	ClinGen:CA169406
Insertion	NM_002878.4(RAD51D):c.140_141insAA (p.Tyr47Ter)	RAD51D	Pathogenic	17	33446133	33446134	G	GTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA169471
Indel	NM_007294.3(BRCA1):c.238_239delAGins22 (p.?)	BRCA1	Pathogenic	17	41256947	41256948	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.4389C>G (p.Tyr1463Ter)	BRCA1	Pathogenic	17	41228600	41228600	G	C	reviewed by expert panel	ClinGen:CA002814
single nucleotide variant	NM_000059.4(BRCA2):c.8332-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32944537	32944537	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025585
Deletion	NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)	BRCA2	Pathogenic	13	32910551	32910555	TGATTA	T	reviewed by expert panel	ClinGen:CA014250
Deletion	NM_000059.4(BRCA2):c.6226_6229del (p.Val2076fs)	BRCA2	Pathogenic	13	32914717	32914720	AAGTT	A	reviewed by expert panel	ClinGen:CA023774
single nucleotide variant	NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)	RAD51C	Pathogenic	17	56780686	56780686	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA169763
Insertion	NM_007294.4(BRCA1):c.3579_3580insT (p.Thr1194fs)	BRCA1	Pathogenic	17	41243968	41243969	T	TA	criteria provided, single submitter	ClinGen:CA002278
Deletion	NM_007294.4(BRCA1):c.3969_3970del (p.Gln1323fs)	BRCA1	Pathogenic	17	41243578	41243579	ATT	A	reviewed by expert panel	ClinGen:CA002544