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.4986+2T>C	BRCA1	Pathogenic	17	41222943	41222943	A	G	criteria provided, single submitter	ClinGen:CA003120
single nucleotide variant	NM_007294.4(BRCA1):c.4986+3G>C	BRCA1	Pathogenic/Likely pathogenic	17	41222942	41222942	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+3&base_change=G to C,ClinGen:CA003121
single nucleotide variant	NM_007294.4(BRCA1):c.4986+4A>T	BRCA1	Pathogenic/Likely pathogenic	17	41222941	41222941	T	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+4&base_change=A to T,ClinGen:CA003123
single nucleotide variant	NM_007294.4(BRCA1):c.4986+6T>G	BRCA1	Pathogenic	17	41222939	41222939	A	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5105+6&base_change=T to G,ClinGen:CA003128
single nucleotide variant	NM_007294.4(BRCA1):c.4987-2A>G	BRCA1	Pathogenic	17	41219714	41219714	T	C	reviewed by expert panel	ClinGen:CA003132
single nucleotide variant	NM_007294.4(BRCA1):c.4987-3C>G	BRCA1	Pathogenic/Likely pathogenic	17	41219715	41219715	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003133
single nucleotide variant	NM_007294.4(BRCA1):c.4987-5T>A	BRCA1	Pathogenic/Likely pathogenic	17	41219717	41219717	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003135
single nucleotide variant	NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)	BRCA1	Pathogenic	17	41219700	41219700	T	A	reviewed by expert panel	ClinGen:CA003149
Deletion	NM_007294.4(BRCA1):c.5005del (p.Ala1669fs)	BRCA1	Pathogenic	17	41219694	41219694	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5124&base_change=del G,ClinGen:CA003151
Deletion	NM_007294.4(BRCA1):c.5026_5036del (p.Leu1676fs)	BRCA1	Pathogenic	17	41219663	41219673	TAGATTAGTTAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5145&base_change=del TTAACTAATCT,ClinGen:CA003157