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
single nucleotide variant	NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	RAD51C	Pathogenic/Likely pathogenic	17	56787287	56787287	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168628,UniProtKB:O43502#VAR_064032,OMIM:602774.0001
single nucleotide variant	NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)	RAD51C	Likely pathogenic	17	56772520	56772520	G	T	criteria provided, single submitter	ClinGen:CA118526,UniProtKB:O43502#VAR_063838,OMIM:602774.0003
single nucleotide variant	NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	RAD51C	Pathogenic/Likely pathogenic	17	56774063	56774063	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA118528,UniProtKB:O43502#VAR_063840,OMIM:602774.0004
Deletion	NM_000059.4(BRCA2):c.7004_7007+2del	BRCA2	Pathogenic	13	32921029	32921034	CTTTCGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA325946,OMIM:600185.0001
Deletion	NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	BRCA2	Pathogenic	13	32914767	32914768	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6503&base_change=del TT,ClinGen:CA023808,OMIM:600185.0002
Deletion	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Pathogenic	13	32915083	32915084	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6819&base_change=del TG,ClinGen:CA024193,OMIM:600185.0003
Deletion	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2	Pathogenic	13	32911298	32911301	TAAAC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3034&base_change=del AAAC,Breast Cancer Information Core (BIC) (BRCA2):3036&base_change=del ACAA,ClinGen:CA016424,OMIM:600185.0006,OMIM:600185.0016
Deletion	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2	Pathogenic	13	32914438	32914438	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6174&base_change=del T,ClinGen:CA023403,OMIM:600185.0005,OMIM:600185.0009
Deletion	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Pathogenic	13	32905141	32905145	ACAAAT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):995&base_change=del CAAAT,Breast Cancer Information Core (BIC) (BRCA2):999&base_change=del TCAAA,ClinGen:CA025222,OMIM:600185.0010
single nucleotide variant	NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)	BRCA2	Pathogenic	13	32937504	32937504	C	G	reviewed by expert panel	ClinGen:CA025480,OMIM:600185.0025