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.697_698del (p.Val233fs)	BRCA1	Pathogenic	17	41246850	41246851	TAC	T	reviewed by expert panel	ClinGen:CA003822,Breast Cancer Information Core (BIC) (BRCA1):816&base_change=del GT
single nucleotide variant	NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)	BRCA1	Pathogenic	17	41246765	41246765	A	C	reviewed by expert panel	ClinGen:CA003865
Deletion	NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)	BRCA1	Pathogenic	17	41246749	41246750	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):917&base_change=del TT,Breast Cancer Information Core (BIC) (BRCA1):916&base_change=del TT,ClinGen:CA003881
single nucleotide variant	NM_007294.4(BRCA1):c.85G>T (p.Glu29Ter)	BRCA1	Pathogenic	17	41267792	41267792	C	A	reviewed by expert panel	ClinGen:CA003943
Deletion	NM_007294.4(BRCA1):c.929del (p.Gln310fs)	BRCA1	Pathogenic	17	41246619	41246619	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1048&base_change=del A,ClinGen:CA003973
Deletion	NM_007294.4(BRCA1):c.952_1015del (p.His318fs)	BRCA1	Pathogenic	17	41246533	41246596	TTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1071&base_change=del 64,ClinGen:CA003981
single nucleotide variant	NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)	BRCA1	Pathogenic	17	41246586	41246586	C	T	reviewed by expert panel	ClinGen:CA003986
Deletion	NM_000059.4(BRCA2):c.1029del (p.Lys343fs)	BRCA2	Pathogenic	13	32906640	32906640	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1257&base_change=del A,ClinGen:CA010596
Duplication	NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)	BRCA2	Pathogenic	13	32906668	32906669	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1282&base_change=ins T,ClinGen:CA010673
Deletion	NM_000059.4(BRCA2):c.1156del (p.Glu386fs)	BRCA2	Pathogenic	13	32906770	32906770	AG	A	reviewed by expert panel	ClinGen:CA010998