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.5536C>T (p.Gln1846Ter)	BRCA1	Pathogenic	17	41197751	41197751	G	A	reviewed by expert panel	ClinGen:CA003704
single nucleotide variant	NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)	BRCA1	Pathogenic	17	41197746	41197746	G	T	reviewed by expert panel	ClinGen:CA003706
Deletion	NM_007294.4(BRCA1):c.5548del (p.Leu1850fs)	BRCA1	Pathogenic	17	41197739	41197739	AG	A	reviewed by expert panel	ClinGen:CA003707
Duplication	NM_007294.4(BRCA1):c.5553dup (p.Thr1852fs)	BRCA1	Pathogenic	17	41197733	41197734	T	TG	reviewed by expert panel	ClinGen:CA328027
single nucleotide variant	NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)	BRCA1	Pathogenic/Likely pathogenic	17	41197729	41197729	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003714
Duplication	NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)	BRCA1	Pathogenic	17	41197728	41197729	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5677&base_change=ins A,ClinGen:CA003713,OMIM:113705.0019
single nucleotide variant	NM_007294.4(BRCA1):c.5559C>A (p.Tyr1853Ter)	BRCA1	Pathogenic	17	41197728	41197728	G	T	reviewed by expert panel	ClinGen:CA003715
single nucleotide variant	NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)	BRCA1	Pathogenic	17	41197728	41197728	G	C	reviewed by expert panel	ClinGen:CA003716
single nucleotide variant	NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter)	BRCA1	Pathogenic	17	41276059	41276059	G	A	reviewed by expert panel	ClinGen:CA003737
Insertion	NM_007294.4(BRCA1):c.569_570insAACG (p.Val191fs)	BRCA1	Pathogenic	17	41249284	41249285	G	GCGTT	criteria provided, single submitter	ClinGen:CA003740