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
Deletion	NC_000017.11:g.(?_43063868)_(43124102_?)del	BRCA1	Pathogenic	17	41215885	41276119	na	na	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.5155_5158dup (p.Thr1720fs)	BRCA1	Pathogenic	17	41215384	41215385	G	GTCAC	criteria provided, single submitter	ClinGen:CA658798068
Duplication	NM_007294.4(BRCA1):c.5137dup (p.Val1713fs)	BRCA1	Pathogenic	17	41215905	41215906	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798070
single nucleotide variant	NM_007294.4(BRCA1):c.3800T>G (p.Leu1267Ter)	BRCA1	Pathogenic	17	41243748	41243748	A	C	reviewed by expert panel	ClinGen:CA10594370
single nucleotide variant	NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)	BRCA1	Likely pathogenic	17	41276061	41276061	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602052
Indel	NM_007294.4(BRCA1):c.5155_5159delinsAAA (p.Val1719fs)	BRCA1	Pathogenic	17	41215384	41215388	GTCAC	TTT	criteria provided, single submitter	ClinGen:CA658798067
single nucleotide variant	NM_007294.4(BRCA1):c.4676-2A>C	BRCA1	Likely pathogenic	17	41223257	41223257	T	G	criteria provided, single submitter	ClinGen:CA10592158
Insertion	NM_007294.4(BRCA1):c.4654_4655insC (p.Tyr1552fs)	BRCA1	Pathogenic	17	41226368	41226369	T	TG	criteria provided, single submitter	ClinGen:CA658798840
single nucleotide variant	NM_007294.4(BRCA1):c.4039A>T (p.Arg1347Ter)	BRCA1	Pathogenic	17	41243509	41243509	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10593880
single nucleotide variant	NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)	BRCA1	Likely pathogenic	17	41201181	41201181	C	G	criteria provided, single submitter	ClinGen:CA10590739