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_000059.4(BRCA2):c.3G>T (p.Met1Ile)	BRCA2	Pathogenic	13	32890600	32890600	G	T	criteria provided, single submitter	ClinGen:CA019369
Deletion	NM_000059.4(BRCA2):c.3del (p.Met1fs)	BRCA2	Pathogenic	13	32890600	32890600	TG	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):231&base_change=del G,ClinGen:CA019358
Deletion	NM_000059.4(BRCA2):c.4013del (p.Gly1338fs)	BRCA2	Pathogenic	13	32912504	32912504	TG	T	reviewed by expert panel	ClinGen:CA019392
Deletion	NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)	BRCA2	Pathogenic	13	32912549	32912553	TGAAAC	T	reviewed by expert panel	ClinGen:CA019444
Deletion	NM_000059.4(BRCA2):c.407del (p.Asn136fs)	BRCA2	Pathogenic	13	32899301	32899301	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):635&base_change=del A,ClinGen:CA019481
Deletion	NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)	BRCA2	Pathogenic	13	32912619	32912622	GGAAA	G	reviewed by expert panel	ClinGen:CA019561
Insertion	NM_000059.3(BRCA2):c.4131_4132ins6	BRCA2	Pathogenic	13	32912623	32912624	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.4151T>A (p.Leu1384Ter)	BRCA2	Pathogenic	13	32912643	32912643	T	A	reviewed by expert panel	ClinGen:CA019626
Indel	NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)	BRCA2	Pathogenic	13	32912655	32912656	CT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4391&base_change=del CT ins A,ClinGen:CA019640
single nucleotide variant	NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)	BRCA2	Pathogenic	13	32912714	32912714	C	T	reviewed by expert panel	ClinGen:CA019744