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.134+1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41267742	41267742	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+1&base_change=G to C,ClinGen:CA000878
single nucleotide variant	NM_007294.4(BRCA1):c.135-2A>G	BRCA1	Pathogenic	17	41258552	41258552	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):254-2&base_change=A to G,ClinGen:CA000897
Duplication	NM_007294.4(BRCA1):c.2438dup (p.Leu814fs)	BRCA1	Pathogenic	17	41245109	41245110	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2557&base_change=ins G,ClinGen:CA001627
Duplication	NM_007294.4(BRCA1):c.139dup (p.Cys47fs)	BRCA1	Pathogenic	17	41258545	41258546	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):258&base_change=ins T,ClinGen:CA000931
Duplication	NM_007294.4(BRCA1):c.2474dup (p.Asp825fs)	BRCA1	Pathogenic	17	41245073	41245074	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2593&base_change=ins A,ClinGen:CA001644
Deletion	NM_007294.4(BRCA1):c.2586_2593del (p.Val863fs)	BRCA1	Pathogenic	17	41244955	41244962	TTTGAAACC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2705&base_change=del GGTTTCAA,ClinGen:CA001700
Insertion	NM_007294.4(BRCA1):c.2658_2659insA (p.Ala887fs)	BRCA1	Pathogenic	17	41244889	41244890	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2777&base_change=ins A,ClinGen:CA001740
Deletion	NM_007294.4(BRCA1):c.2686del (p.Ser896fs)	BRCA1	Pathogenic	17	41244862	41244862	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2805&base_change=del A,ClinGen:CA001770
Deletion	NM_007294.4(BRCA1):c.171del (p.Pro58fs)	BRCA1	Pathogenic	17	41258514	41258514	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):290&base_change=del G,ClinGen:CA001126
Deletion	NM_007294.4(BRCA1):c.2799del (p.Gln934fs)	BRCA1	Pathogenic	17	41244749	41244749	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2918&base_change=del T,ClinGen:CA001835