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.5370_5397del (p.Val1791fs)	BRCA1	Pathogenic	17	41201147	41201174	GGGTGAATGATGAAAGCTCCTTCACCACA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5489&base_change=del 28,ClinGen:CA003538
Deletion	NM_007294.4(BRCA1):c.5406+2del	BRCA1	Pathogenic	17	41201136	41201136	TA	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):5525+2&base_change=del T,ClinGen:CA268394
single nucleotide variant	NM_007294.4(BRCA1):c.5407-1G>A	BRCA1	Pathogenic	17	41199721	41199721	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5526-1&base_change=G to A,ClinGen:CA003569
single nucleotide variant	NM_007294.4(BRCA1):c.5407-1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41199721	41199721	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5526-1&base_change=G to C,ClinGen:CA003570
Insertion	NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs)	BRCA1	Pathogenic	17	41199662	41199663	T	TA	reviewed by expert panel	ClinGen:CA003609
single nucleotide variant	NM_007294.4(BRCA1):c.5467+2T>C	BRCA1	Pathogenic/Likely pathogenic	17	41199658	41199658	A	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5586+2&base_change=T to C,ClinGen:CA003611
single nucleotide variant	NM_007294.4(BRCA1):c.5467+2T>G	BRCA1	Likely pathogenic	17	41199658	41199658	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5586+2&base_change=T to G,ClinGen:CA003612
single nucleotide variant	NM_007294.4(BRCA1):c.5468-1G>A	BRCA1	Pathogenic	17	41197820	41197820	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5587-1&base_change=G to A,ClinGen:CA003623
Deletion	NM_007294.4(BRCA1):c.5490del (p.Pro1831fs)	BRCA1	Pathogenic	17	41197797	41197797	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5609&base_change=del A,ClinGen:CA003661
Deletion	NM_007294.4(BRCA1):c.5498_5511del (p.Val1833fs)	BRCA1	Pathogenic	17	41197776	41197789	CCCACTCTCGGGTCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5617&base_change=del 14,ClinGen:CA003668