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.5417del (p.Pro1806fs)	BRCA1	Pathogenic	17	41199710	41199710	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5536&base_change=del C,ClinGen:CA003581
single nucleotide variant	NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)	BRCA1	Pathogenic/Likely pathogenic	17	41199693	41199693	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003596
single nucleotide variant	NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41199674	41199674	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003605
single nucleotide variant	NM_007294.4(BRCA1):c.5467+1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41199659	41199659	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5586+1&base_change=G to A,ClinGen:CA003610
single nucleotide variant	NM_007294.4(BRCA1):c.547+2T>A	BRCA1	Pathogenic	17	41251790	41251790	A	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):666+2&base_change=T to A,ClinGen:CA003636
single nucleotide variant	NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	BRCA1	Pathogenic	17	41197778	41197778	A	G	reviewed by expert panel	ClinGen:CA003680,UniProtKB:P38398#VAR_070518
single nucleotide variant	NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)	BRCA1	Pathogenic/Likely pathogenic	17	41197776	41197776	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003686
single nucleotide variant	NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)	BRCA1	Likely pathogenic	17	41197766	41197766	T	G	criteria provided, single submitter	ClinGen:CA003694
Duplication	NM_007294.4(BRCA1):c.66dup (p.Glu23fs)	BRCA1	Pathogenic	17	41276047	41276048	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):185&base_change=ins A,ClinGen:CA003784
Deletion	NM_007294.4(BRCA1):c.676del (p.Cys226fs)	BRCA1	Pathogenic	17	41246872	41246872	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):795&base_change=del T,ClinGen:CA003808