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.139T>G (p.Cys47Gly)	BRCA1	Likely pathogenic	17	41258546	41258546	A	C	criteria provided, single submitter	ClinGen:CA000943
Deletion	NM_007294.4(BRCA1):c.1403del (p.Lys468fs)	BRCA1	Pathogenic	17	41246145	41246145	CT	C	reviewed by expert panel	ClinGen:CA000946
Deletion	NM_007294.4(BRCA1):c.1405del (p.Ala469fs)	BRCA1	Pathogenic	17	41246143	41246143	GC	G	reviewed by expert panel	ClinGen:CA000947
single nucleotide variant	NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)	BRCA1	Pathogenic	17	41258545	41258545	C	T	reviewed by expert panel	ClinGen:CA000951
single nucleotide variant	NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)	BRCA1	Pathogenic/Likely pathogenic	17	41258545	41258545	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000952
single nucleotide variant	NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)	BRCA1	Pathogenic	17	41246127	41246127	A	C	reviewed by expert panel	ClinGen:CA000958
Duplication	NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)	BRCA1	Pathogenic	17	41246108	41246109	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1558&base_change=ins A,ClinGen:CA000962
Deletion	NM_007294.4(BRCA1):c.1444del (p.Ile482fs)	BRCA1	Pathogenic	17	41246104	41246104	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1563&base_change=del A,ClinGen:CA000968
Deletion	NM_007294.4(BRCA1):c.144del (p.Met48fs)	BRCA1	Pathogenic	17	41258541	41258541	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):263&base_change=del G,ClinGen:CA000971
single nucleotide variant	NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)	BRCA1	Pathogenic	17	41246098	41246098	C	A	reviewed by expert panel	ClinGen:CA000973