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.1386del (p.Thr464fs)	BRCA1	Pathogenic	17	41246162	41246162	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1505&base_change=del G,ClinGen:CA000923
Duplication	NM_007294.4(BRCA1):c.1386dup (p.Lys463fs)	BRCA1	Pathogenic	17	41246161	41246162	T	TC	reviewed by expert panel	ClinGen:CA327738
Indel	NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)	BRCA1	Pathogenic	17	41246158	41246161	TTTT	CTTTC	reviewed by expert panel	ClinGen:CA000925
Insertion	NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs)	BRCA1	Pathogenic	17	41246157	41246158	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA000928
Deletion	NM_007294.4(BRCA1):c.1390del (p.Thr464fs)	BRCA1	Pathogenic	17	41246158	41246158	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1506&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):1509&base_change=del A,ClinGen:CA000926
Deletion	NM_007294.4(BRCA1):c.1392del (p.Tyr465fs)	BRCA1	Pathogenic	17	41246156	41246156	AG	A	reviewed by expert panel	ClinGen:CA000935
single nucleotide variant	NM_007294.4(BRCA1):c.1399A>T (p.Lys467Ter)	BRCA1	Pathogenic	17	41246149	41246149	T	A	reviewed by expert panel	ClinGen:CA000941
single nucleotide variant	NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly)	BRCA1	Likely pathogenic	17	41258546	41258546	A	C	criteria provided, single submitter	ClinGen:CA000943
Deletion	NM_007294.4(BRCA1):c.1403del (p.Lys468fs)	BRCA1	Pathogenic	17	41246145	41246145	CT	C	reviewed by expert panel	ClinGen:CA000946
Deletion	NM_007294.4(BRCA1):c.1405del (p.Ala469fs)	BRCA1	Pathogenic	17	41246143	41246143	GC	G	reviewed by expert panel	ClinGen:CA000947