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
Insertion	NM_000059.4(BRCA2):c.8208_8209insAG (p.Leu2737fs)	BRCA2	Pathogenic	13	32937547	32937548	C	CAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8436&base_change=ins AG,ClinGen:CA025517
Duplication	NM_000059.4(BRCA2):c.8219dup (p.Leu2740fs)	BRCA2	Pathogenic	13	32937556	32937557	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8447&base_change=ins T,ClinGen:CA025522
Insertion	NM_000059.3(BRCA2):c.8278_8279ins71 (p.?)	BRCA2	Pathogenic	13	32937617	32937618	na	na	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8506&base_change=ins 71
Duplication	NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)	BRCA2	Pathogenic	13	32937661	32937662	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8551&base_change=ins A,ClinGen:CA025571
Deletion	NM_000059.4(BRCA2):c.8578_8579del (p.Lys2860fs)	BRCA2	Pathogenic	13	32945181	32945182	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8806&base_change=del AA,ClinGen:CA025720
Duplication	NM_000059.4(BRCA2):c.8745_8748dup (p.Glu2918fs)	BRCA2	Pathogenic	13	32950917	32950918	G	GCTTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8976&base_change=ins TTAC,ClinGen:CA025800
single nucleotide variant	NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)	BRCA2	Pathogenic	13	32953902	32953902	G	A	reviewed by expert panel	ClinGen:CA025903
Insertion	NM_000059.4(BRCA2):c.9066_9067insAA (p.Ala3023fs)	BRCA2	Pathogenic	13	32953998	32953999	G	GAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9294&base_change=ins AA,ClinGen:CA025956
Duplication	NM_000059.4(BRCA2):c.9098dup (p.Gln3034fs)	BRCA2	Pathogenic	13	32954030	32954031	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9326&base_change=ins C,ClinGen:CA025973
single nucleotide variant	NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)	BRCA2	Pathogenic	13	32954253	32954253	G	T	reviewed by expert panel	ClinGen:CA026041