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
single nucleotide variant	NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter)	BRCA1	Pathogenic	17	41243557	41243557	G	A	reviewed by expert panel	ClinGen:CA002556
single nucleotide variant	NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)	BRCA1	Pathogenic	17	41243533	41243533	C	A	reviewed by expert panel	ClinGen:CA002568
Deletion	NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	BRCA1	Pathogenic	17	41243513	41243513	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4154&base_change=del A,ClinGen:CA002573,OMIM:113705.0030
single nucleotide variant	NM_007294.4(BRCA1):c.4097-1G>A	BRCA1	Pathogenic	17	41243050	41243050	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4216-1&base_change=G to A,BRCA1-HCI:BRCA1_00136,ClinGen:CA002624
single nucleotide variant	NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)	BRCA1	Pathogenic	17	41243029	41243029	C	A	reviewed by expert panel	ClinGen:CA002641
single nucleotide variant	NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)	BRCA1	Pathogenic	17	41242998	41242998	G	C	reviewed by expert panel	ClinGen:CA002657
Indel	NM_007294.4(BRCA1):c.4185+2_4185+22delinsA	BRCA1	Pathogenic	17	41242939	41242959	CACACACACACACGCTTTTTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4304+2&base_change=del 21 ins A,ClinGen:CA260692
Deletion	NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)	BRCA1	Pathogenic	17	41234535	41234535	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4362&base_change=del G,ClinGen:CA002727
single nucleotide variant	NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)	BRCA1	Pathogenic	17	41256153	41256153	C	A	reviewed by expert panel	ClinGen:CA002746
single nucleotide variant	NM_007294.4(BRCA1):c.4357+1G>A	BRCA1	Pathogenic	17	41234420	41234420	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4476+1&base_change=G to A,BRCA1-HCI:BRCA1_00138,ClinGen:CA002787