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.2868del (p.Gln957fs)	BRCA1	Pathogenic	17	41244680	41244680	GA	G	reviewed by expert panel	ClinGen:CA001868,Breast Cancer Information Core (BIC) (BRCA1):2987&base_change=del T
Insertion	NM_007294.4(BRCA1):c.2871_2872insA (p.Phe958fs)	BRCA1	Pathogenic	17	41244676	41244677	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2990&base_change=ins A,ClinGen:CA001872
Deletion	NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs)	BRCA1	Pathogenic	17	41244658	41244659	CCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3008&base_change=del TG,ClinGen:CA001885
Indel	NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter)	BRCA1	Pathogenic	17	41244552	41244553	AG	TA	reviewed by expert panel	ClinGen:CA001945
Duplication	NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs)	BRCA1	Pathogenic	17	41244503	41244504	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3163&base_change=ins G,ClinGen:CA002001
Indel	NM_007294.4(BRCA1):c.3114_3117delinsGA (p.Ala1039fs)	BRCA1	Pathogenic	17	41244431	41244434	GGCT	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3233&base_change=del AGCC ins GA,ClinGen:CA002037
Insertion	NM_007294.4(BRCA1):c.3158_3159insG (p.Val1054fs)	BRCA1	Pathogenic	17	41244389	41244390	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3277&base_change=ins G,ClinGen:CA002060
Insertion	NM_007294.4(BRCA1):c.3194_3195insG (p.Asp1065fs)	BRCA1	Pathogenic	17	41244353	41244354	A	AC	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):3313&base_change=ins G,ClinGen:CA002080
Insertion	NM_007294.4(BRCA1):c.3256_3257insGA (p.Leu1086Ter)	BRCA1	Pathogenic	17	41244291	41244292	A	ATC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3375&base_change=ins GA,ClinGen:CA002104
Insertion	NM_007294.4(BRCA1):c.3330_3331insA (p.Gln1111fs)	BRCA1	Pathogenic	17	41244217	41244218	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3449&base_change=ins A,ClinGen:CA002155