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.2806_2809del (p.Asp936fs)	BRCA1	Pathogenic	17	41244739	41244742	TTATC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2925&base_change=del GATA,ClinGen:CA001838
Insertion	NM_007294.4(BRCA1):c.2864_2865insT (p.Ser956fs)	BRCA1	Pathogenic	17	41244683	41244684	T	TA	criteria provided, single submitter	ClinGen:CA001865
single nucleotide variant	NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)	BRCA1	Pathogenic	17	41244614	41244614	A	C	reviewed by expert panel	ClinGen:CA001915
Deletion	NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer)	BRCA1	Pathogenic	17	41244566	41244567	TAC	T	reviewed by expert panel	ClinGen:CA001939
single nucleotide variant	NM_007294.4(BRCA1):c.302-2A>C	BRCA1	Pathogenic/Likely pathogenic	17	41256280	41256280	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):421-2&base_change=A to C,ClinGen:CA001979
single nucleotide variant	NM_007294.4(BRCA1):c.302-3C>G	BRCA1	Pathogenic/Likely pathogenic	17	41256281	41256281	G	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):421-3&base_change=C to G,ClinGen:CA001987
Insertion	NM_007294.3(BRCA1):c.3052_3053ins5	BRCA1	Pathogenic	17	41244495	41244496	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter)	BRCA1	Pathogenic	17	41244436	41244436	C	A	reviewed by expert panel	ClinGen:CA002035
Deletion	NM_007294.4(BRCA1):c.3174del (p.Asn1059fs)	BRCA1	Pathogenic	17	41244374	41244374	TA	T	reviewed by expert panel	ClinGen:CA002069
Deletion	NM_007294.4(BRCA1):c.329del (p.Lys110fs)	BRCA1	Pathogenic	17	41256251	41256251	CT	C	reviewed by expert panel	ClinGen:CA002130