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.5154G>T (p.Trp1718Cys)	BRCA1	Pathogenic/Likely pathogenic	17	41215389	41215389	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003307,UniProtKB:P38398#VAR_070503
Deletion	NM_007294.3(BRCA1):c.5155delG	BRCA1	Pathogenic	17	41215388	41215388	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5274&base_change=del G,ClinGen:CA003308
Deletion	NM_007294.4(BRCA1):c.5156_5157del (p.Val1719fs)	BRCA1	Pathogenic	17	41215386	41215387	TCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5275&base_change=del TG,ClinGen:CA003309
Deletion	NM_007294.4(BRCA1):c.5162del (p.Gln1721fs)	BRCA1	Pathogenic	17	41215381	41215381	CT	C	reviewed by expert panel	ClinGen:CA003316
single nucleotide variant	NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	BRCA1	Pathogenic/Likely pathogenic	17	41215378	41215378	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003318
single nucleotide variant	NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter)	BRCA1	Pathogenic	17	41215370	41215370	C	A	reviewed by expert panel	ClinGen:CA003319
Deletion	NM_007294.4(BRCA1):c.5177_5178del (p.Arg1726fs)	BRCA1	Pathogenic	17	41215365	41215366	TTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5296&base_change=del GA,ClinGen:CA003322
Deletion	NM_007294.4(BRCA1):c.5179_5192del (p.Lys1727fs)	BRCA1	Pathogenic	17	41215351	41215364	CTCATTCAGCATTTT	C	reviewed by expert panel	ClinGen:CA003326
Deletion	NM_007294.4(BRCA1):c.5182del (p.Met1728fs)	BRCA1	Pathogenic	17	41215361	41215361	AT	A	reviewed by expert panel	ClinGen:CA003328
single nucleotide variant	NM_007294.4(BRCA1):c.5193+1G>C	BRCA1	Pathogenic	17	41215349	41215349	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5312+1&base_change=G to C,ClinGen:CA003337