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.1066C>T (p.Gln356Ter)	BRCA1	Pathogenic	17	41246482	41246482	G	A	reviewed by expert panel	ClinGen:CA000711
Deletion	NM_007294.4(BRCA1):c.1067del (p.Gln356fs)	BRCA1	Pathogenic	17	41246481	41246481	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1186&base_change=del A,ClinGen:CA000713
Deletion	NM_007294.4(BRCA1):c.1068_1077del (p.Gln356fs)	BRCA1	Pathogenic	17	41246471	41246480	ATGGCAGTTTC	A	reviewed by expert panel	ClinGen:CA000714
Deletion	NM_007294.4(BRCA1):c.1072del (p.Leu358fs)	BRCA1	Pathogenic	17	41246476	41246476	AG	A	reviewed by expert panel	ClinGen:CA000718,Breast Cancer Information Core (BIC) (BRCA1):1191&base_change=del C
single nucleotide variant	NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter)	BRCA1	Pathogenic	17	41246466	41246466	G	C	reviewed by expert panel	ClinGen:CA000726
Deletion	NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)	BRCA1	Pathogenic	17	41246456	41246466	TAGGATTCTCTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1201&base_change=del 11,ClinGen:CA000724
Deletion	NM_007294.4(BRCA1):c.1088del (p.Asn363fs)	BRCA1	Pathogenic	17	41246460	41246460	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1207&base_change=del A,ClinGen:CA000730
Deletion	NM_007294.4(BRCA1):c.1091del (p.Pro364fs)	BRCA1	Pathogenic	17	41246457	41246457	AG	A	reviewed by expert panel	ClinGen:CA000731
Duplication	NM_007294.4(BRCA1):c.1099dup (p.Thr367fs)	BRCA1	Pathogenic	17	41246448	41246449	G	GT	reviewed by expert panel	ClinGen:CA327717
Duplication	NM_007294.4(BRCA1):c.1100dup (p.Thr367_Glu368insTer)	BRCA1	Pathogenic	17	41246447	41246448	A	AG	reviewed by expert panel	ClinGen:CA327718