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.6331_6332del (p.Lys2111fs)	BRCA2	Pathogenic	13	32914823	32914824	TAA	T	reviewed by expert panel	ClinGen:CA023923
single nucleotide variant	NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)	BRCA2	Pathogenic	13	32910831	32910831	C	G	reviewed by expert panel	ClinGen:CA014999
Indel	NM_000059.4(BRCA2):c.6836_6837delinsCTTTGTGGTAAGTTT (p.Leu2279delinsSerLeuTrpTer)	BRCA2	Pathogenic	13	32915328	32915329	TA	CTTTGTGGTAAGTTT	reviewed by expert panel	ClinGen:CA024478
Duplication	NM_000059.4(BRCA2):c.681+2dup	BRCA2	Pathogenic/Likely pathogenic	13	32903631	32903631	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA024430
Duplication	NM_007294.4(BRCA1):c.512dup (p.Gln172fs)	BRCA1	Pathogenic	17	41251826	41251827	T	TA	reviewed by expert panel	ClinGen:CA164433
single nucleotide variant	NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)	RAD51C	Pathogenic	17	56774151	56774151	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294043
single nucleotide variant	NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)	BRCA2	Pathogenic	13	32936731	32936731	G	A	reviewed by expert panel	ClinGen:CA025317
Deletion	NM_000059.4(BRCA2):c.6702del (p.Phe2234fs)	BRCA2	Pathogenic	13	32915191	32915191	CT	C	reviewed by expert panel	ClinGen:CA024308
Indel	NM_007294.4(BRCA1):c.5153-16_5156delinsAATA	BRCA1	Likely pathogenic	17	41215387	41215406	ACCCCTAAAGAGATCATAGA	TATT	criteria provided, single submitter	ClinGen:CA164592
Indel	NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer)	RAD51D	Pathogenic	17	33430485	33430491	GACCTCC	AACCTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA164593