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.5123C>A (p.Ala1708Glu)	BRCA1	Pathogenic	17	41215920	41215920	G	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00045,ClinGen:CA003252,UniProtKB:P38398#VAR_007796
Deletion	NM_007294.4(BRCA1):c.5126del (p.Gly1709fs)	BRCA1	Pathogenic	17	41215917	41215917	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5245&base_change=del G,ClinGen:CA003254
single nucleotide variant	NM_007294.4(BRCA1):c.5128G>T (p.Gly1710Ter)	BRCA1	Pathogenic	17	41215915	41215915	C	A	reviewed by expert panel	ClinGen:CA003256
single nucleotide variant	NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)	BRCA1	Pathogenic	17	41215907	41215907	C	T	reviewed by expert panel	ClinGen:CA003260
Deletion	NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)	BRCA1	Pathogenic	17	41215906	41215906	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5256&base_change=del G,ClinGen:CA003261
single nucleotide variant	NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41215902	41215902	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003263
single nucleotide variant	NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg)	BRCA1	Pathogenic	17	41215900	41215900	T	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00051,ClinGen:CA003264,UniProtKB:P38398#VAR_063906
single nucleotide variant	NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)	BRCA1	Likely pathogenic	17	41215900	41215900	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003265
single nucleotide variant	NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)	BRCA1	Pathogenic	17	41215899	41215899	C	T	reviewed by expert panel	ClinGen:CA003266
single nucleotide variant	NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41215898	41215898	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003268,UniProtKB:P38398#VAR_063906