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
Duplication	NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)	BRCA2	Pathogenic	13	32953888	32953889	T	TA	reviewed by expert panel	ClinGen:CA025898
Deletion	NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)	BRCA2	Pathogenic	13	32953893	32953896	CTGAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9189&base_change=del GAGT,ClinGen:CA025901
single nucleotide variant	NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter)	BRCA2	Pathogenic	13	32953903	32953903	G	A	reviewed by expert panel	ClinGen:CA025904
single nucleotide variant	NM_000059.4(BRCA2):c.8978C>A (p.Ser2993Ter)	BRCA2	Pathogenic	13	32953911	32953911	C	A	reviewed by expert panel	ClinGen:CA025910
Deletion	NM_000059.4(BRCA2):c.8978_8991del (p.Ser2993fs)	BRCA2	Pathogenic	13	32953909	32953922	CATCATCAGATTTAT	C	reviewed by expert panel	ClinGen:CA025907
Insertion	NM_000059.4(BRCA2):c.897_898insC (p.Val300fs)	BRCA2	Pathogenic	13	32906512	32906513	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1125&base_change=ins C,ClinGen:CA025909
Deletion	NM_000059.4(BRCA2):c.8980_8983del (p.Ser2994fs)	BRCA2	Pathogenic	13	32953913	32953916	ATCAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9208&base_change=del TCAG,ClinGen:CA025913
Indel	NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs)	BRCA2	Pathogenic	13	32953921	32953923	ATA	TT	reviewed by expert panel	ClinGen:CA025914
single nucleotide variant	NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter)	BRCA2	Pathogenic	13	32953924	32953924	T	G	reviewed by expert panel	ClinGen:CA025915
single nucleotide variant	NM_000059.4(BRCA2):c.8999T>A (p.Leu3000Ter)	BRCA2	Pathogenic	13	32953932	32953932	T	A	reviewed by expert panel	ClinGen:CA025918