遺伝性乳がん・卵巣がん症候群

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	Single allele	BRCA1	Pathogenic	17	41215969	41277341	na	na	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)	BRCA2	Pathogenic	13	32944607	32944609	TTT	AAAA	reviewed by expert panel	ClinGen:CA645509335
Deletion	NM_000059.4(BRCA2):c.8206del (p.Leu2736fs)	BRCA2	Pathogenic	13	32937542	32937542	TC	T	reviewed by expert panel	ClinGen:CA645509333
single nucleotide variant	NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter)	BRCA2	Pathogenic	13	32911814	32911814	A	T	reviewed by expert panel	ClinGen:CA387776244
Deletion	NM_000059.4(BRCA2):c.2754del (p.Asn918fs)	BRCA2	Pathogenic	13	32911246	32911246	AC	A	reviewed by expert panel	ClinGen:CA645509341
single nucleotide variant	NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)	BRCA2	Pathogenic	13	32906472	32906472	C	G	reviewed by expert panel	ClinGen:CA387760554
Deletion	NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)	BRCA2	Pathogenic	13	32890591	32890606	AGGTAAAAATGCCTATT	A	criteria provided, single submitter	ClinGen:CA645509355
Deletion	NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs)	BRCA1	Pathogenic	17	41223252	41223253	TCC	T	reviewed by expert panel	ClinGen:CA645509504
single nucleotide variant	NM_007294.4(BRCA1):c.541G>T (p.Glu181Ter)	BRCA1	Pathogenic	17	41251798	41251798	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601058
single nucleotide variant	NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter)	BRCA2	Pathogenic	13	32907351	32907351	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16021323