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.5333-2A>C	BRCA1	Pathogenic	17	41201213	41201213	T	G	criteria provided, single submitter	ClinGen:CA003497
single nucleotide variant	NM_007294.4(BRCA1):c.5333-2A>T	BRCA1	Pathogenic/Likely pathogenic	17	41201213	41201213	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003498
single nucleotide variant	NM_007294.4(BRCA1):c.5333-3T>G	BRCA1	Pathogenic	17	41201214	41201214	A	C	criteria provided, single submitter	ClinGen:CA003499
single nucleotide variant	NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter)	BRCA1	Pathogenic	17	41201209	41201209	G	A	reviewed by expert panel	ClinGen:CA003506
single nucleotide variant	NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)	BRCA1	Pathogenic/Likely pathogenic	17	41201205	41201205	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003508
single nucleotide variant	NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter)	BRCA1	Pathogenic	17	41201203	41201203	C	A	reviewed by expert panel	ClinGen:CA003511
Deletion	NM_007294.4(BRCA1):c.5341del (p.Glu1781fs)	BRCA1	Pathogenic	17	41201203	41201203	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5460&base_change=del G,ClinGen:CA003510
single nucleotide variant	NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter)	BRCA1	Pathogenic	17	41201199	41201199	C	T	reviewed by expert panel	ClinGen:CA003512
single nucleotide variant	NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)	BRCA1	Pathogenic	17	41201191	41201191	G	A	reviewed by expert panel	ClinGen:CA003519
Indel	NM_007294.4(BRCA1):c.5360_5361delinsAG (p.Cys1787Ter)	BRCA1	Pathogenic	17	41201183	41201184	AC	CT	reviewed by expert panel	ClinGen:CA003527