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.5145del (p.Tyr1716fs)	BRCA1	Pathogenic	17	41215898	41215898	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5264&base_change=del C,ClinGen:CA003269
single nucleotide variant	NM_007294.4(BRCA1):c.5152+1G>A	BRCA1	Pathogenic	17	41215890	41215890	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5271+1&base_change=G to A,ClinGen:CA003279
single nucleotide variant	NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)	BRCA1	Likely pathogenic	17	41215379	41215379	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003317
single nucleotide variant	NM_007294.4(BRCA1):c.5194-1G>A	BRCA1	Pathogenic	17	41209153	41209153	C	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):5313-1&base_change=G to A,ClinGen:CA003345
Deletion	NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)	BRCA1	Pathogenic	17	41209105	41209105	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5360&base_change=del A,ClinGen:CA003381
Deletion	NM_007294.4(BRCA1):c.5277+1_5277+6del	BRCA1	Pathogenic	17	41209063	41209068	GCTTTAC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5396+1&base_change=del 6,ClinGen:CA16615648
Deletion	NM_007294.4(BRCA1):c.5304del (p.Tyr1769fs)	BRCA1	Pathogenic	17	41203108	41203108	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5423&base_change=del C,ClinGen:CA003457
Deletion	NM_007294.4(BRCA1):c.5311_5332+1del	BRCA1	Pathogenic	17	41203079	41203101	ACCTGTGGGCATGTTGGTGAAGGG	A	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):5430&base_change=del 23,ClinGen:CA10602574
single nucleotide variant	NM_007294.4(BRCA1):c.5332+2T>A	BRCA1	Pathogenic/Likely pathogenic	17	41203078	41203078	A	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5451+2&base_change=T to A,ClinGen:CA003487
Duplication	NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)	BRCA1	Pathogenic	17	41201191	41201192	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5471&base_change=ins A,ClinGen:CA003518