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
single nucleotide variant	NM_007294.4(BRCA1):c.65T>A (p.Leu22Ter)	BRCA1	Pathogenic	17	41276049	41276049	A	T	reviewed by expert panel	ClinGen:CA10585945
single nucleotide variant	NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)	BRCA1	Pathogenic	17	41276049	41276049	A	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00111,ClinGen:CA003779,UniProtKB:P38398#VAR_007756
Deletion	NM_007294.4(BRCA1):c.64_65del (p.Leu22fs)	BRCA1	Pathogenic	17	41276049	41276050	TAA	T	reviewed by expert panel	ClinGen:CA003771
Insertion	NM_007294.4(BRCA1):c.65_66insTA (p.Leu22fs)	BRCA1	Pathogenic	17	41276048	41276049	T	TTA	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.64_65dup (p.Leu22fs)	BRCA1	Pathogenic	17	41276048	41276049	T	TAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):184&base_change=ins TT,ClinGen:CA003777
Duplication	NM_007294.4(BRCA1):c.66dup (p.Glu23fs)	BRCA1	Pathogenic	17	41276047	41276048	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):185&base_change=ins A,ClinGen:CA003784
Insertion	NM_007294.4(BRCA1):c.67_68insC (p.Glu23fs)	BRCA1	Pathogenic	17	41276046	41276047	T	TG	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.68del (p.Glu23fs)	BRCA1	Pathogenic	17	41276046	41276046	CT	C	reviewed by expert panel	ClinGen:CA10590043
Duplication	NM_007294.4(BRCA1):c.68dup (p.Cys24fs)	BRCA1	Pathogenic	17	41276045	41276046	C	CT	reviewed by expert panel	ClinGen:CA328041
single nucleotide variant	NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41276044	41276044	A	C	criteria provided, multiple submitters, no conflicts	-