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.7007+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32921034	32921034	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583124
Duplication	NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)	BRCA2	Pathogenic	13	32929133	32929134	A	AT	reviewed by expert panel	ClinGen:CA6941064
Deletion	NM_000059.4(BRCA2):c.7673del (p.Glu2558fs)	BRCA2	Pathogenic	13	32931934	32931934	GA	G	reviewed by expert panel	ClinGen:CA10583134
Deletion	NM_000059.4(BRCA2):c.8223del (p.Asn2742fs)	BRCA2	Pathogenic	13	32937562	32937562	AG	A	reviewed by expert panel	ClinGen:CA10583139
Deletion	NM_000059.4(BRCA2):c.8585_8586del (p.Leu2862fs)	BRCA2	Pathogenic	13	32945190	32945191	CTA	C	reviewed by expert panel	ClinGen:CA10583144
Deletion	NM_000059.4(BRCA2):c.9270del (p.Phe3090fs)	BRCA2	Pathogenic	13	32968839	32968839	TC	T	reviewed by expert panel	ClinGen:CA10583152
Deletion	NM_002878.3(RAD51D):c.739-?_*1161del	RAD51D	Likely pathogenic	17	33426811	33428384	na	na	criteria provided, single submitter	-
Deletion	NM_058216.2(RAD51C):c.572-?_705+?del	RAD51C	Pathogenic	17	56780557	56780690	na	na	criteria provided, single submitter	-
Duplication	NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)	RAD51D	Pathogenic/Likely pathogenic	17	33434458	33434459	T	TTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499526
single nucleotide variant	NM_002878.4(RAD51D):c.263+2T>C	RAD51D	Likely pathogenic	17	33445518	33445518	A	G	criteria provided, single submitter	ClinGen:CA10583536