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.7412_7421del (p.Thr2471fs)	BRCA2	Pathogenic	13	32929401	32929410	CACAAAGTGTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7640&base_change=del CAAAGTGTGA,ClinGen:CA025063
Deletion	NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)	BRCA2	Pathogenic	13	32929403	32929404	CAA	C	reviewed by expert panel	ClinGen:CA025067,Breast Cancer Information Core (BIC) (BRCA2):7642&base_change=del AA
single nucleotide variant	NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)	BRCA2	Pathogenic	13	32930609	32930609	C	T	reviewed by expert panel	ClinGen:CA025108
Duplication	NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs)	BRCA2	Pathogenic	13	32930667	32930668	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7771&base_change=ins A,ClinGen:CA025138
Deletion	NM_000059.4(BRCA2):c.756_757del (p.Asp252fs)	BRCA2	Pathogenic	13	32905129	32905130	GAC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):984&base_change=del CA,ClinGen:CA025155
single nucleotide variant	NM_000059.4(BRCA2):c.7618-1G>A	BRCA2	Pathogenic	13	32931878	32931878	G	A	reviewed by expert panel	ClinGen:CA025188
single nucleotide variant	NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)	BRCA2	Pathogenic	13	32932019	32932019	G	A	reviewed by expert panel	ClinGen:CA025260
single nucleotide variant	NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)	BRCA2	Pathogenic	13	32936711	32936711	G	A	reviewed by expert panel	ClinGen:CA025311
single nucleotide variant	NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32936722	32936722	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025314
single nucleotide variant	NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)	BRCA2	Pathogenic	13	32936732	32936732	G	A	reviewed by expert panel	ClinGen:CA025318