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.1016del (p.Lys339fs)	BRCA1	Pathogenic	17	41246532	41246532	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1129&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):1135&base_change=del A,ClinGen:CA000682
Deletion	NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer)	BRCA1	Pathogenic	17	41246530	41246530	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1137&base_change=del G,ClinGen:CA000689
Deletion	NM_007294.4(BRCA1):c.1121del (p.Thr374fs)	BRCA1	Pathogenic	17	41246427	41246427	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1240&base_change=del C,ClinGen:CA000751
single nucleotide variant	NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)	BRCA1	Pathogenic	17	41267761	41267761	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000772
single nucleotide variant	NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)	BRCA1	Pathogenic/Likely pathogenic	17	41267761	41267761	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000773
Deletion	NM_007294.4(BRCA1):c.1175_1215del (p.Leu392fs)	BRCA1	Pathogenic	17	41246333	41246373	TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	reviewed by expert panel	ClinGen:CA000778
Deletion	NM_007294.4(BRCA1):c.1177_1219del (p.Leu393fs)	BRCA1	Pathogenic	17	41246329	41246371	GCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA	G	reviewed by expert panel	ClinGen:CA000780
Deletion	NM_007294.4(BRCA1):c.1175_1218del (p.Leu392fs)	BRCA1	Pathogenic	17	41246330	41246373	CATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	C	reviewed by expert panel	ClinGen:CA000781
single nucleotide variant	NM_007294.4(BRCA1):c.134+5G>C	BRCA1	Pathogenic	17	41267738	41267738	C	G	criteria provided, single submitter	ClinGen:CA000887
Insertion	NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)	BRCA1	Pathogenic	17	41246207	41246208	A	AC	reviewed by expert panel	ClinGen:CA000877