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_007294.4(BRCA1):c.3778_3779insA (p.Leu1260fs)	BRCA1	Pathogenic	17	41243769	41243770	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3897&base_change=ins A,ClinGen:CA002433
Duplication	NM_007294.4(BRCA1):c.3830dup (p.Ala1279fs)	BRCA1	Pathogenic	17	41243717	41243718	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3949&base_change=ins C,ClinGen:CA002467
Deletion	NM_007294.4(BRCA1):c.3867_3871del (p.Lys1290fs)	BRCA1	Pathogenic	17	41243677	41243681	CATTTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3986&base_change=del AAAAT,ClinGen:CA002490
Duplication	NM_007294.4(BRCA1):c.3908dup (p.Leu1303fs)	BRCA1	Pathogenic	17	41243639	41243640	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4027&base_change=ins T,ClinGen:CA002514
Indel	NM_007294.3(BRCA1):c.288_292delCACAGins7	BRCA1	Pathogenic	17	41256894	41256898	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):407&base_change=del CACAG ins 7
Insertion	NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs)	BRCA1	Pathogenic	17	41243497	41243498	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4169&base_change=ins G,ClinGen:CA002585
single nucleotide variant	NM_007294.4(BRCA1):c.302-1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41256279	41256279	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):421-1&base_change=G to T,ClinGen:CA001976
Deletion	NM_007294.4(BRCA1):c.4110_4111del (p.Gly1371fs)	BRCA1	Pathogenic	17	41243035	41243036	CCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4229&base_change=del TG,ClinGen:CA002631
Insertion	NM_007294.4(BRCA1):c.4111_4112insATCT (p.Gly1371fs)	BRCA1	Pathogenic	17	41243034	41243035	C	CAGAT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4230&base_change=ins ATCT,ClinGen:CA002632
Deletion	NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)	BRCA1	Pathogenic	17	41243033	41243033	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4232&base_change=del G,ClinGen:CA002634