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.4474A>T (p.Lys1492Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912966	32912966	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042139
Deletion	NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32913062	32913065	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042140
Deletion	NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs)	BRCA2	Likely pathogenic	13	32913978	32913979	TTG	T	criteria provided, single submitter	ClinGen:CA16042141
single nucleotide variant	NM_002878.4(RAD51D):c.576+1G>A	RAD51D	Pathogenic/Likely pathogenic	17	33433404	33433404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499450
Deletion	NM_002878.4(RAD51D):c.85del (p.Val29fs)	RAD51D	Pathogenic/Likely pathogenic	17	33446189	33446189	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042160
Duplication	NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)	BRCA1	Pathogenic/Likely pathogenic	17	41199686	41199687	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042162
single nucleotide variant	NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41203105	41203105	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590934
Deletion	NM_007294.4(BRCA1):c.5156del (p.Val1719fs)	BRCA1	Pathogenic/Likely pathogenic	17	41215387	41215387	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042164
single nucleotide variant	NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)	BRCA1	Pathogenic	17	41243000	41243000	G	T	reviewed by expert panel	ClinGen:CA10593429
single nucleotide variant	NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41246679	41246679	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10600340