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.4387del (p.Tyr1463fs)	BRCA1	Pathogenic	17	41228602	41228602	TA	T	reviewed by expert panel	ClinGen:CA002812
Indel	NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)	BRCA1	Pathogenic	17	41228596	41228598	TAG	AA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4510&base_change=del CTA ins TT,ClinGen:CA002815
Deletion	NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)	BRCA1	Pathogenic	17	41228598	41228598	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4510&base_change=del C,ClinGen:CA002818
Deletion	NM_007294.4(BRCA1):c.4393del (p.Pro1464_Ile1465insTer)	BRCA1	Pathogenic	17	41228596	41228596	AT	A	reviewed by expert panel	ClinGen:CA002820
Duplication	NM_007294.4(BRCA1):c.4427dup (p.Phe1477fs)	BRCA1	Pathogenic	17	41228561	41228562	C	CT	reviewed by expert panel	ClinGen:CA002851
Deletion	NM_007294.4(BRCA1):c.4482_4483del (p.Arg1495fs)	BRCA1	Pathogenic	17	41228506	41228507	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4601&base_change=del AA,ClinGen:CA002869
single nucleotide variant	NM_007294.4(BRCA1):c.4484+1G>A	BRCA1	Pathogenic	17	41228504	41228504	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4603+1&base_change=G to A,ClinGen:CA002873
single nucleotide variant	NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)	BRCA1	Pathogenic/Likely pathogenic	17	41228505	41228505	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA002875
single nucleotide variant	NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	BRCA1	Pathogenic	17	41228505	41228505	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4603&base_change=G to T,ClinGen:CA002876,UniProtKB:P38398#VAR_063900
Duplication	NM_007294.4(BRCA1):c.466dup (p.Leu156fs)	BRCA1	Pathogenic	17	41251872	41251873	A	AG	reviewed by expert panel	ClinGen:CA002953