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.456_457del (p.Ser153fs)	BRCA1	Pathogenic	17	41251882	41251883	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):575&base_change=del CA,ClinGen:CA002905
single nucleotide variant	NM_007294.4(BRCA1):c.547+1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41251791	41251791	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):666+1&base_change=G to A,ClinGen:CA003632
Insertion	NM_007294.3(BRCA1):c.851_852ins7	BRCA1	Pathogenic	17	41246696	41246697	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):970&base_change=ins 7
Indel	NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)	BRCA2	Pathogenic	13	32906506	32906514	AACAGTTGT	GATACTTCAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1119&base_change=del 9 ins GATACTTCAG,ClinGen:CA025873
Insertion	NM_000059.4(BRCA2):c.995_996insG (p.Ile332fs)	BRCA2	Pathogenic	13	32906610	32906611	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1223&base_change=ins G,ClinGen:CA026348
Insertion	NM_000059.4(BRCA2):c.1190_1191insTTAG (p.Gln397delinsHisTer)	BRCA2	Pathogenic	13	32906805	32906806	A	ATTAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1418&base_change=ins TTAG,ClinGen:CA011109
Deletion	NM_000059.4(BRCA2):c.1231del (p.Ile411fs)	BRCA2	Pathogenic	13	32906843	32906843	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1459&base_change=del A,ClinGen:CA011252
Duplication	NM_000059.4(BRCA2):c.1362dup (p.Ser455fs)	BRCA2	Pathogenic	13	32906973	32906974	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1590&base_change=ins A,ClinGen:CA011750
Duplication	NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)	BRCA2	Pathogenic	13	32907022	32907023	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1636&base_change=ins G,ClinGen:CA011946
Duplication	NM_000059.4(BRCA2):c.1542dup (p.Thr515fs)	BRCA2	Pathogenic	13	32907156	32907157	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1769&base_change=ins G,ClinGen:CA012337