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.3001G>T (p.Glu1001Ter)	BRCA1	Pathogenic	17	41244547	41244547	C	A	reviewed by expert panel	ClinGen:CA10586636
Deletion	NM_007294.4(BRCA1):c.2927del (p.Asn976fs)	BRCA1	Pathogenic	17	41244621	41244621	GT	G	reviewed by expert panel	ClinGen:CA10586637
Deletion	NM_007294.4(BRCA1):c.2898del (p.Thr967fs)	BRCA1	Pathogenic	17	41244650	41244650	TA	T	reviewed by expert panel	ClinGen:CA10586638
Deletion	NM_007294.4(BRCA1):c.2806_2807del (p.Lys935_Asp936insTer)	BRCA1	Pathogenic	17	41244741	41244742	ATC	A	reviewed by expert panel	ClinGen:CA10586639
Insertion	NM_007294.4(BRCA1):c.2689_2690insAC (p.Pro897fs)	BRCA1	Pathogenic	17	41244858	41244859	G	GGT	reviewed by expert panel	ClinGen:CA10586640
Insertion	NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs)	BRCA1	Pathogenic	17	41244898	41244899	T	TTGCC	reviewed by expert panel	ClinGen:CA10586641
Deletion	NM_007294.4(BRCA1):c.2630del (p.Asn877fs)	BRCA1	Pathogenic	17	41244918	41244918	AT	A	reviewed by expert panel	ClinGen:CA10586642
Duplication	NM_007294.4(BRCA1):c.2601_2604dup (p.Phe869fs)	BRCA1	Pathogenic	17	41244943	41244944	A	ATGAC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2723&base_change=ins GTCA,ClinGen:CA001715
single nucleotide variant	NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)	BRCA1	Pathogenic	17	41244949	41244949	G	A	reviewed by expert panel	ClinGen:CA10586643
Deletion	NM_007294.4(BRCA1):c.2445_2448del (p.Ile815fs)	BRCA1	Pathogenic	17	41245100	41245103	CATGA	C	reviewed by expert panel	ClinGen:CA10586644