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_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs)	BRCA1	Pathogenic	17	41243017	41243018	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4247&base_change=del AA,ClinGen:CA002648
Duplication	NM_007294.4(BRCA1):c.4163dup (p.Ser1389fs)	BRCA1	Pathogenic	17	41242982	41242983	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4282&base_change=ins A,ClinGen:CA002662
Insertion	NM_007294.4(BRCA1):c.4167_4168insAG (p.Asp1390fs)	BRCA1	Pathogenic	17	41242978	41242979	C	CCT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4286&base_change=ins AG,ClinGen:CA002667
Deletion	NM_007294.4(BRCA1):c.4214del (p.Ile1405fs)	BRCA1	Pathogenic	17	41234564	41234564	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4333&base_change=del T,ClinGen:CA002715
Insertion	NM_007294.4(BRCA1):c.4285_4286insG (p.Tyr1429Ter)	BRCA1	Pathogenic	17	41234492	41234493	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4404&base_change=ins G,ClinGen:CA002748
Duplication	NM_007294.4(BRCA1):c.4289dup (p.Ser1431fs)	BRCA1	Pathogenic	17	41234488	41234489	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4408&base_change=ins C,ClinGen:CA002751
Duplication	NM_007294.4(BRCA1):c.4463dup (p.Asn1488fs)	BRCA1	Pathogenic	17	41228525	41228526	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4582&base_change=ins A,ClinGen:CA002862
single nucleotide variant	NM_007294.4(BRCA1):c.4675+3A>T	BRCA1	Pathogenic	17	41226345	41226345	T	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4794+3&base_change=A to T,ClinGen:CA002961
single nucleotide variant	NM_007294.4(BRCA1):c.4676-1G>A	BRCA1	Pathogenic	17	41223256	41223256	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4795-1&base_change=G to A,ClinGen:CA002968
single nucleotide variant	NM_007294.4(BRCA1):c.4676-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41223257	41223257	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4795-2&base_change=A to G,ClinGen:CA002969