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_007294.4(BRCA1):c.211del (p.Arg71fs)	BRCA1	Pathogenic	17	41258474	41258474	CT	C	reviewed by expert panel	ClinGen:CA10586673
Duplication	NM_007294.4(BRCA1):c.205dup (p.Thr69fs)	BRCA1	Pathogenic	17	41258479	41258480	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):322&base_change=ins A,ClinGen:CA001352
Duplication	NM_007294.4(BRCA1):c.165_166dup (p.Lys56fs)	BRCA1	Pathogenic	17	41258518	41258519	T	TTC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):285&base_change=ins GA,ClinGen:CA001097
Deletion	NM_007294.4(BRCA1):c.74_75del (p.Pro25fs)	BRCA1	Pathogenic	17	41276039	41276040	TGG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):192&base_change=del CC,ClinGen:CA003843
Deletion	NM_007294.4(BRCA1):c.65del (p.Ile21_Leu22insTer)	BRCA1	Pathogenic	17	41276049	41276049	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):183&base_change=del T,ClinGen:CA003774
Deletion	NM_007294.4(BRCA1):c.51del (p.Met18fs)	BRCA1	Pathogenic	17	41276063	41276063	TA	T	reviewed by expert panel	ClinGen:CA10586674
single nucleotide variant	NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)	BRCA1	Likely pathogenic	17	41197774	41197774	A	C	criteria provided, single submitter	ClinGen:CA10586676
single nucleotide variant	NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)	BRCA1	Likely pathogenic	17	41215968	41215968	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586678
single nucleotide variant	NM_007294.4(BRCA1):c.213-5T>A	BRCA1	Pathogenic/Likely pathogenic	17	41256978	41256978	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586680
single nucleotide variant	NM_000059.4(BRCA2):c.1185G>A (p.Trp395Ter)	BRCA2	Pathogenic	13	32906800	32906800	G	A	reviewed by expert panel	ClinGen:CA10588559