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.4054G>T (p.Glu1352Ter)	BRCA1	Pathogenic	17	41243494	41243494	C	A	reviewed by expert panel	ClinGen:CA002590
Deletion	NM_007294.4(BRCA1):c.4062_4065del (p.Asn1355fs)	BRCA1	Pathogenic	17	41243483	41243486	GATTA	G	reviewed by expert panel	ClinGen:CA002593
single nucleotide variant	NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)	BRCA1	Pathogenic	17	41243454	41243454	A	C	reviewed by expert panel	ClinGen:CA002616
Insertion	NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)	BRCA1	Pathogenic/Likely pathogenic	17	41243029	41243030	C	CAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA002639
single nucleotide variant	NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)	BRCA1	Pathogenic	17	41234424	41234424	T	A	reviewed by expert panel	ClinGen:CA002783
single nucleotide variant	NM_007294.4(BRCA1):c.4357+2T>G	BRCA1	Pathogenic/Likely pathogenic	17	41234419	41234419	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4476+2&base_change=T to G,ClinGen:CA002792
Deletion	NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)	BRCA1	Pathogenic	17	41226530	41226530	AG	A	reviewed by expert panel	ClinGen:CA002885
Deletion	NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)	BRCA1	Pathogenic	17	41215357	41215357	CA	C	reviewed by expert panel	ClinGen:CA003329
single nucleotide variant	NM_007294.4(BRCA1):c.5193+1G>T	BRCA1	Pathogenic	17	41215349	41215349	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003338
Deletion	NM_007294.4(BRCA1):c.5277+1del	BRCA1	Pathogenic/Likely pathogenic	17	41209068	41209068	AC	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5396+1&base_change=del G,ClinGen:CA003418