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.5345G>A (p.Trp1782Ter)	BRCA1	Pathogenic	17	41201199	41201199	C	T	reviewed by expert panel	ClinGen:CA003512
single nucleotide variant	NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)	BRCA1	Pathogenic	17	41201191	41201191	G	A	reviewed by expert panel	ClinGen:CA003519
Indel	NM_007294.4(BRCA1):c.5360_5361delinsAG (p.Cys1787Ter)	BRCA1	Pathogenic	17	41201183	41201184	AC	CT	reviewed by expert panel	ClinGen:CA003527
single nucleotide variant	NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)	BRCA1	Likely pathogenic	17	41201182	41201182	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003528
Deletion	NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs)	BRCA1	Pathogenic	17	41201159	41201175	AAAGCTCCTTCACCACAG	A	reviewed by expert panel	ClinGen:CA003534
Deletion	NM_007294.4(BRCA1):c.536del (p.Tyr179fs)	BRCA1	Pathogenic	17	41251803	41251803	GT	G	reviewed by expert panel	ClinGen:CA003537
single nucleotide variant	NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)	BRCA1	Pathogenic	17	41201167	41201167	T	A	reviewed by expert panel	ClinGen:CA003540
Duplication	NM_007294.4(BRCA1):c.5386dup (p.Ser1796fs)	BRCA1	Pathogenic	17	41201157	41201158	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5502&base_change=ins T,ClinGen:CA268393
single nucleotide variant	NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)	BRCA1	Pathogenic/Likely pathogenic	17	41276061	41276061	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003549
Deletion	NM_007294.4(BRCA1):c.5406+1_5406+3del	BRCA1	Pathogenic/Likely pathogenic	17	41201135	41201137	TTAC	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5525+1&base_change=del GTA,ClinGen:CA003553