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.8463dup (p.Ile2822fs)	BRCA2	Pathogenic	13	32944668	32944669	A	AT	reviewed by expert panel	ClinGen:CA025655
Deletion	NM_000059.4(BRCA2):c.8474del (p.Ala2825fs)	BRCA2	Pathogenic	13	32944681	32944681	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8702&base_change=del C,ClinGen:CA025661
single nucleotide variant	NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)	BRCA2	Pathogenic	13	32944692	32944692	C	T	reviewed by expert panel	ClinGen:CA025665
single nucleotide variant	NM_000059.4(BRCA2):c.8487+1G>A	BRCA2	Pathogenic	13	32944695	32944695	G	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8715+1&base_change=G to A,ClinGen:CA025670
single nucleotide variant	NM_000059.4(BRCA2):c.8487+3A>G	BRCA2	Pathogenic/Likely pathogenic	13	32944697	32944697	A	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8715+3&base_change=A to G,ClinGen:CA025672
single nucleotide variant	NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)	BRCA2	Pathogenic	13	32945094	32945094	G	A	reviewed by expert panel	ClinGen:CA025679
single nucleotide variant	NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter)	BRCA2	Pathogenic	13	32945109	32945109	C	A	reviewed by expert panel	ClinGen:CA025685
Deletion	NM_000059.4(BRCA2):c.8505del (p.Ser2836fs)	BRCA2	Pathogenic	13	32945110	32945110	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8733&base_change=del A,ClinGen:CA025686
Deletion	NM_000059.4(BRCA2):c.8528del (p.Asn2843fs)	BRCA2	Pathogenic	13	32945132	32945132	CA	C	reviewed by expert panel	ClinGen:CA025695
Deletion	NM_000059.4(BRCA2):c.8532_8533del (p.Glu2846fs)	BRCA2	Pathogenic	13	32945136	32945137	GAA	G	reviewed by expert panel	ClinGen:CA025696