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
Deletion	NM_000059.4(BRCA2):c.3381del (p.Phe1127fs)	BRCA2	Pathogenic	13	32911871	32911871	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3609&base_change=del T,ClinGen:CA017889
single nucleotide variant	NM_000059.4(BRCA2):c.3442C>T (p.Gln1148Ter)	BRCA2	Pathogenic	13	32911934	32911934	C	T	reviewed by expert panel	ClinGen:CA018022
Duplication	NM_000059.4(BRCA2):c.3452dup (p.Thr1154fs)	BRCA2	Pathogenic	13	32911943	32911944	A	AT	reviewed by expert panel	ClinGen:CA018072
Deletion	NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer)	BRCA2	Pathogenic	13	32911945	32911945	TC	T	reviewed by expert panel	ClinGen:CA018090
single nucleotide variant	NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)	BRCA2	Pathogenic	13	32911947	32911947	T	G	reviewed by expert panel	ClinGen:CA018097
Deletion	NM_000059.4(BRCA2):c.3465_3466del (p.Thr1155_Ser1156insTer)	BRCA2	Pathogenic	13	32911957	32911958	CTT	C	reviewed by expert panel	ClinGen:CA018127
single nucleotide variant	NM_000059.4(BRCA2):c.3469G>T (p.Glu1157Ter)	BRCA2	Pathogenic	13	32911961	32911961	G	T	reviewed by expert panel	ClinGen:CA018132
Deletion	NM_000059.4(BRCA2):c.3487del (p.Asp1163fs)	BRCA2	Pathogenic	13	32911979	32911979	TG	T	reviewed by expert panel	ClinGen:CA018156
Deletion	NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)	BRCA2	Pathogenic	13	32911991	32911992	CAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3728&base_change=del TA,ClinGen:CA018202
Deletion	NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs)	BRCA2	Pathogenic	13	32912023	32912026	ACAGC	A	reviewed by expert panel	ClinGen:CA018270