家族性膵がん - MGenReviews

家族性膵がん

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
Duplication	NM_000059.4(BRCA2):c.6240dup (p.Glu2081fs)	BRCA2	Pathogenic	13	32914731	32914732	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6468&base_change=ins A,ClinGen:CA023785
Deletion	NM_000059.4(BRCA2):c.6268_6269del (p.Glu2089_His2090insTer)	BRCA2	Pathogenic	13	32914760	32914761	GCA	G	reviewed by expert panel	ClinGen:CA023797
Deletion	NM_000059.4(BRCA2):c.6270_6271del (p.His2090fs)	BRCA2	Pathogenic	13	32914761	32914762	CAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6498&base_change=del TA,ClinGen:CA023800
Deletion	NM_000059.4(BRCA2):c.6276del (p.His2093fs)	BRCA2	Pathogenic	13	32914767	32914767	CT	C	reviewed by expert panel	ClinGen:CA023810
Deletion	NM_000059.4(BRCA2):c.6280_6286del (p.Tyr2094fs)	BRCA2	Pathogenic	13	32914767	32914773	CTTCACTA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6508&base_change=del TATTCAC,ClinGen:CA023816
Deletion	NM_000059.4(BRCA2):c.6282_6289del (p.Ser2095fs)	BRCA2	Pathogenic	13	32914771	32914778	ACTATTCAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6510&base_change=del TTCACCTA,ClinGen:CA023821
Deletion	NM_000059.4(BRCA2):c.6302del (p.Asn2101fs)	BRCA2	Pathogenic	13	32914791	32914791	CA	C	reviewed by expert panel	ClinGen:CA023840
single nucleotide variant	NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)	BRCA2	Pathogenic	13	32914800	32914800	C	A	reviewed by expert panel	ClinGen:CA023844
single nucleotide variant	NM_000059.4(BRCA2):c.631+2T>C	BRCA2	Likely pathogenic	13	32900752	32900752	T	C	criteria provided, single submitter	ClinGen:CA023850
single nucleotide variant	NM_000059.4(BRCA2):c.631+3A>G	BRCA2	Pathogenic/Likely pathogenic	13	32900753	32900753	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023855