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.8285del (p.Pro2762fs)	BRCA2	Pathogenic	13	32937623	32937623	TC	T	reviewed by expert panel	ClinGen:CA025550
single nucleotide variant	NM_000059.4(BRCA2):c.8314G>T (p.Glu2772Ter)	BRCA2	Pathogenic	13	32937653	32937653	G	T	reviewed by expert panel	ClinGen:CA025564
Deletion	NM_000059.4(BRCA2):c.8317_8330del (p.Ser2773fs)	BRCA2	Pathogenic	13	32937654	32937667	GAATCTCTTATGTTA	G	reviewed by expert panel	ClinGen:CA025565
single nucleotide variant	NM_000059.4(BRCA2):c.8327T>G (p.Leu2776Ter)	BRCA2	Pathogenic	13	32937666	32937666	T	G	reviewed by expert panel	ClinGen:CA025575
Deletion	NM_000059.4(BRCA2):c.8331_8332del (p.Lys2777fs)	BRCA2	Pathogenic	13	32937669	32937670	AAG	A	reviewed by expert panel	ClinGen:CA025576
single nucleotide variant	NM_000059.4(BRCA2):c.8331+1G>T	BRCA2	Likely pathogenic	13	32937671	32937671	G	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):8559+1&base_change=G to T,ClinGen:CA025579
single nucleotide variant	NM_000059.4(BRCA2):c.8332-1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32944538	32944538	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025583
Deletion	NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs)	BRCA2	Pathogenic	13	32944546	32944549	GCTAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8568&base_change=del TAAC,ClinGen:CA025590
Deletion	NM_000059.4(BRCA2):c.8343del (p.Asn2781fs)	BRCA2	Pathogenic	13	32944550	32944550	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8571&base_change=del C,ClinGen:CA025591
Duplication	NM_000059.4(BRCA2):c.8348dup (p.Arg2784fs)	BRCA2	Pathogenic	13	32944554	32944555	A	AC	reviewed by expert panel	ClinGen:CA025592