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
Insertion	NM_007294.4(BRCA1):c.3814_3815insT (p.Asn1272fs)	BRCA1	Pathogenic	17	41243733	41243734	T	TA	reviewed by expert panel	ClinGen:CA002457
single nucleotide variant	NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)	BRCA1	Pathogenic	17	41243731	41243731	G	A	reviewed by expert panel	ClinGen:CA002459
Deletion	NM_007294.4(BRCA1):c.3820del (p.Gln1273_Val1274insTer)	BRCA1	Pathogenic	17	41243728	41243728	AC	A	reviewed by expert panel	ClinGen:CA002462
Duplication	NM_007294.4(BRCA1):c.3820dup (p.Val1274fs)	BRCA1	Pathogenic	17	41243727	41243728	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3939&base_change=ins G,ClinGen:CA002461
Insertion	NM_007294.4(BRCA1):c.3822_3823insT (p.Ile1275fs)	BRCA1	Pathogenic	17	41243725	41243726	T	TA	criteria provided, single submitter	ClinGen:CA002463
Indel	NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)	BRCA1	Pathogenic	17	41243705	41243709	CTGAG	GCCT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3958&base_change=del CTCAG ins AGGC,ClinGen:CA002470
single nucleotide variant	NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)	BRCA1	Pathogenic	17	41243707	41243707	G	A	reviewed by expert panel	ClinGen:CA002475
Deletion	NM_007294.4(BRCA1):c.3841_3842del (p.Gln1281fs)	BRCA1	Pathogenic	17	41243706	41243707	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3960&base_change=del CA,ClinGen:CA002472
Deletion	NM_007294.4(BRCA1):c.3844del (p.Glu1282fs)	BRCA1	Pathogenic	17	41243704	41243704	TC	T	reviewed by expert panel	ClinGen:CA002477
Deletion	NM_007294.4(BRCA1):c.3856del (p.Ser1286fs)	BRCA1	Pathogenic	17	41243692	41243692	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3975&base_change=del A,ClinGen:CA002484