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_007294.4(BRCA1):c.165_166dup (p.Lys56fs)	BRCA1	Pathogenic	17	41258518	41258519	T	TTC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):285&base_change=ins GA,ClinGen:CA001097
Deletion	NM_007294.4(BRCA1):c.74_75del (p.Pro25fs)	BRCA1	Pathogenic	17	41276039	41276040	TGG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):192&base_change=del CC,ClinGen:CA003843
Deletion	NM_007294.4(BRCA1):c.65del (p.Ile21_Leu22insTer)	BRCA1	Pathogenic	17	41276049	41276049	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):183&base_change=del T,ClinGen:CA003774
Deletion	NM_007294.4(BRCA1):c.51del (p.Met18fs)	BRCA1	Pathogenic	17	41276063	41276063	TA	T	reviewed by expert panel	ClinGen:CA10586674
single nucleotide variant	NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)	BRCA1	Likely pathogenic	17	41197774	41197774	A	C	criteria provided, single submitter	ClinGen:CA10586676
single nucleotide variant	NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)	BRCA1	Likely pathogenic	17	41215968	41215968	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586678
single nucleotide variant	NM_007294.4(BRCA1):c.213-5T>A	BRCA1	Pathogenic/Likely pathogenic	17	41256978	41256978	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586680
single nucleotide variant	NM_000059.4(BRCA2):c.1185G>A (p.Trp395Ter)	BRCA2	Pathogenic	13	32906800	32906800	G	A	reviewed by expert panel	ClinGen:CA10588559
Deletion	NM_000059.4(BRCA2):c.1212del (p.Asn404fs)	BRCA2	Pathogenic	13	32906827	32906827	AT	A	reviewed by expert panel	ClinGen:CA10588560
Deletion	NM_000059.4(BRCA2):c.5120del (p.Thr1707fs)	BRCA2	Pathogenic	13	32913612	32913612	AC	A	reviewed by expert panel	ClinGen:CA10588565