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.5193+1del	BRCA1	Pathogenic/Likely pathogenic	17	41215349	41215349	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003335
Deletion	NM_007294.4(BRCA1):c.5193+2del	BRCA1	Pathogenic	17	41215348	41215348	TA	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5312+2&base_change=del T,ClinGen:CA003340
single nucleotide variant	NM_007294.4(BRCA1):c.5194-12G>A	BRCA1	Pathogenic	17	41209164	41209164	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5313-12&base_change=G to A,BRCA1-HCI:BRCA1_00123,ClinGen:CA003343
single nucleotide variant	NM_007294.4(BRCA1):c.5194-2A>C	BRCA1	Likely pathogenic	17	41209154	41209154	T	G	criteria provided, single submitter	ClinGen:CA003346
single nucleotide variant	NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41209139	41209139	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003358
Deletion	NM_007294.4(BRCA1):c.5207del (p.Val1736fs)	BRCA1	Pathogenic	17	41209139	41209139	GA	G	reviewed by expert panel	ClinGen:CA003356
single nucleotide variant	NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter)	BRCA1	Pathogenic	17	41209137	41209137	T	A	reviewed by expert panel	ClinGen:CA003361
Indel	NM_007294.4(BRCA1):c.5209_5248delinsTC (p.Arg1737fs)	BRCA1	Pathogenic	17	41209098	41209137	TTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCT	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5328&base_change=del 40 ins TC,ClinGen:CA003359
Deletion	NM_007294.4(BRCA1):c.520del (p.Gln174fs)	BRCA1	Pathogenic	17	41251819	41251819	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):639&base_change=del C,ClinGen:CA003362
single nucleotide variant	NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)	BRCA1	Pathogenic	17	41209134	41209134	C	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00043,ClinGen:CA003363,UniProtKB:P38398#VAR_063907