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	NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900285	TAAGTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):698&base_change=del AGTCA,ClinGen:CA020691
Indel	NM_000059.4(BRCA2):c.4731_4736delinsG (p.Leu1578fs)	BRCA2	Pathogenic	13	32913223	32913228	ATTAGC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4959&base_change=del ATTAGC ins G,ClinGen:CA020725
Insertion	NM_000059.4(BRCA2):c.4742_4743insTG (p.Glu1581fs)	BRCA2	Pathogenic	13	32913234	32913235	A	ATG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4970&base_change=ins TG,ClinGen:CA020745
single nucleotide variant	NM_000059.4(BRCA2):c.475+1G>A	BRCA2	Pathogenic	13	32900288	32900288	G	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):703+1&base_change=G to A,ClinGen:CA020753
single nucleotide variant	NM_000059.4(BRCA2):c.475+1G>T	BRCA2	Pathogenic	13	32900288	32900288	G	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):703+1&base_change=G to T,ClinGen:CA020757
single nucleotide variant	NM_000059.4(BRCA2):c.475G>A (p.Val159Met)	BRCA2	Pathogenic/Likely pathogenic	13	32900287	32900287	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020781
Deletion	NM_000059.4(BRCA2):c.4766del (p.Pro1589fs)	BRCA2	Pathogenic	13	32913255	32913255	GC	G	reviewed by expert panel	ClinGen:CA020807
Deletion	NM_000059.4(BRCA2):c.4780del (p.Met1594fs)	BRCA2	Pathogenic	13	32913270	32913270	GA	G	reviewed by expert panel	ClinGen:CA020827
Deletion	NM_000059.4(BRCA2):c.4797del (p.Asn1599fs)	BRCA2	Pathogenic	13	32913289	32913289	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5025&base_change=del T,ClinGen:CA020842
Deletion	NM_000059.4(BRCA2):c.4808del (p.Asn1603fs)	BRCA2	Pathogenic	13	32913296	32913296	TA	T	reviewed by expert panel	ClinGen:CA020858