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.547+1G>T	BRCA1	Pathogenic	17	41251791	41251791	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):666+1&base_change=G to T,ClinGen:CA003633
Deletion	NM_007294.4(BRCA1):c.5470_5477delATTGGGCA	BRCA1	Pathogenic	17	41197810	41197817	CTGCCCAAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5589&base_change=del ATTGGGCA,ClinGen:CA003628
Deletion	NM_007294.4(BRCA1):c.5483del (p.Cys1828fs)	BRCA1	Pathogenic	17	41197804	41197804	AC	A	reviewed by expert panel	ClinGen:CA003652
Deletion	NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)	BRCA1	Pathogenic	17	41197795	41197795	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5611&base_change=del C,ClinGen:CA003663
Indel	NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)	BRCA1	Pathogenic	17	41197781	41197791	CTCGGGTCACC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5615&base_change=del GGTGACCCGAG ins A,ClinGen:CA003665
single nucleotide variant	NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)	BRCA1	Pathogenic/Likely pathogenic	17	41197790	41197790	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003667
Deletion	NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)	BRCA1	Pathogenic	17	41197781	41197790	TCTCGGGTCAC	T	reviewed by expert panel	ClinGen:CA003666
single nucleotide variant	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1	Pathogenic	17	41197784	41197784	G	A	reviewed by expert panel	ClinGen:CA003674
Deletion	NM_007294.4(BRCA1):c.5503_5564del (p.Arg1835fs)	BRCA1	Pathogenic	17	41197723	41197784	TATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5622&base_change=del 62,ClinGen:CA003672
Deletion	NM_007294.4(BRCA1):c.5503del (p.Arg1835fs)	BRCA1	Pathogenic	17	41197784	41197784	CG	C	reviewed by expert panel	ClinGen:CA003675