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.8878C>T (p.Gln2960Ter)	BRCA2	Pathogenic	13	32953577	32953577	C	T	reviewed by expert panel	ClinGen:CA025859
Duplication	NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)	BRCA2	Pathogenic	13	32953587	32953588	C	CA	reviewed by expert panel	ClinGen:CA025861
Deletion	NM_000059.4(BRCA2):c.8912del (p.Lys2971fs)	BRCA2	Pathogenic	13	32953610	32953610	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9140&base_change=del A,ClinGen:CA025868
Duplication	NM_000059.4(BRCA2):c.8912dup (p.Leu2972fs)	BRCA2	Pathogenic	13	32953609	32953610	G	GA	reviewed by expert panel	ClinGen:CA025867
Deletion	NM_000059.4(BRCA2):c.8915del (p.Leu2972fs)	BRCA2	Pathogenic	13	32953613	32953613	GT	G	reviewed by expert panel	ClinGen:CA025869
Deletion	NM_000059.4(BRCA2):c.8924del (p.Val2975fs)	BRCA2	Pathogenic	13	32953623	32953623	GT	G	reviewed by expert panel	ClinGen:CA025875
single nucleotide variant	NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)	BRCA2	Pathogenic	13	32953632	32953632	C	A	reviewed by expert panel	ClinGen:CA025877
Deletion	NM_000059.4(BRCA2):c.8946del (p.Asp2983fs)	BRCA2	Pathogenic	13	32953641	32953641	GA	G	reviewed by expert panel	ClinGen:CA025884
Deletion	NM_000059.4(BRCA2):c.8950del (p.Ser2984fs)	BRCA2	Pathogenic	13	32953648	32953648	AT	A	reviewed by expert panel	ClinGen:CA025885
single nucleotide variant	NM_000059.4(BRCA2):c.8953+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32953653	32953653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025889