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.843_846del (p.Ser282fs)	BRCA1	Pathogenic	17	41246702	41246705	ATGAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):962&base_change=del CTCA,ClinGen:CA003935,OMIM:113705.0024
Deletion	NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)	BRCA1	Pathogenic	17	41244057	41244067	ACTAGTATCTTC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3598&base_change=del AGGAAGATACT,Breast Cancer Information Core (BIC) (BRCA1):3600&base_change=del GAAGATACTAG,ClinGen:CA002244,OMIM:113705.0025
Deletion	NM_007294.4(BRCA1):c.1556del (p.Lys519fs)	BRCA1	Pathogenic	17	41245992	41245992	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1675&base_change=del A,ClinGen:CA001042,OMIM:113705.0026
single nucleotide variant	NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)	BRCA1	Pathogenic	17	41258474	41258474	T	C	reviewed by expert panel	ClinGen:CA001398,OMIM:113705.0034
single nucleotide variant	NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	BRCA1	Pathogenic	17	41203088	41203088	A	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00105,ClinGen:CA003478,UniProtKB:P38398#VAR_007799,OMIM:113705.0035
single nucleotide variant	NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)	BRCA1	Pathogenic	17	41203088	41203088	A	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00110,ClinGen:CA003476,UniProtKB:P38398#VAR_063212,OMIM:113705.0036
single nucleotide variant	NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	RAD51D	Pathogenic	17	33433425	33433425	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129082,OMIM:602954.0003
single nucleotide variant	NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	RAD51D	Pathogenic	17	33428366	33428366	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129085,OMIM:602954.0006
single nucleotide variant	NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	RAD51C	Pathogenic	17	56772543	56772543	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325658,OMIM:602774.0005
Deletion	NM_058216.3(RAD51C):c.230del (p.Gly77fs)	RAD51C	Pathogenic	17	56772375	56772375	TG	T	criteria provided, single submitter	ClinGen:CA16044116,LOVD 3:RAD51C_000003,OMIM:602774.0006