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_007294.4(BRCA1):c.3G>A (p.Met1Ile)	BRCA1	Pathogenic/Likely pathogenic	17	41276111	41276111	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:487432,ClinGen:CA10602153
Deletion	NC_000017.11:g.(?_43049184)_(43057059_?)del	BRCA1	Pathogenic	17	41201201	41209076	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43070991)_(43082575_?)del	BRCA1	Pathogenic	17	41223008	41234592	na	na	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.5200_5201insC (p.Phe1734fs)	BRCA1	Pathogenic	17	41209145	41209146	A	AG	criteria provided, single submitter	ClinGen:CA645373154
Deletion	NM_007294.4(BRCA1):c.5039_5040del (p.Ile1680fs)	BRCA1	Pathogenic	17	41219659	41219660	TAA	T	reviewed by expert panel	ClinGen:CA645373161
Deletion	NM_007294.4(BRCA1):c.4901_4919del (p.Arg1634fs)	BRCA1	Pathogenic	17	41223012	41223030	TGTCAATTCTGGCTTCTCCC	T	reviewed by expert panel	ClinGen:CA645373141
Deletion	NM_007294.4(BRCA1):c.4348del (p.Ser1450fs)	BRCA1	Pathogenic	17	41234430	41234430	GA	G	reviewed by expert panel	ClinGen:CA645373145
Duplication	NM_007294.4(BRCA1):c.4822dup (p.Ala1608fs)	BRCA1	Pathogenic	17	41223108	41223109	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373143
single nucleotide variant	NM_000059.4(BRCA2):c.317-2A>G	BRCA2	Likely pathogenic	13	32899211	32899211	A	G	criteria provided, single submitter	ClinGen:CA387756456
Insertion	NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)	BRCA1	Pathogenic/Likely pathogenic	17	41246184	41246185	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656790