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_000059.4(BRCA2):c.3068_3071del (p.Asn1023fs)	BRCA2	Pathogenic	13	32911560	32911563	AACAT	A	reviewed by expert panel	ClinGen:CA645372951
Deletion	NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)	BRCA2	Pathogenic/Likely pathogenic	13	32893211	32893459	ATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA500022
Deletion	NM_000059.4(BRCA2):c.246del (p.Glu83fs)	BRCA2	Pathogenic	13	32893390	32893390	CA	C	reviewed by expert panel	ClinGen:CA645372943
Deletion	NM_000059.4(BRCA2):c.745_757del (p.Ser249fs)	BRCA2	Pathogenic	13	32905119	32905131	TTCTGTGACAGACA	T	reviewed by expert panel	ClinGen:CA645372986
Duplication	NM_000059.4(BRCA2):c.1889_1890dup (p.Phe631fs)	BRCA2	Pathogenic	13	32907502	32907503	T	TAC	reviewed by expert panel	ClinGen:CA645372949
Duplication	NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)	BRCA2	Pathogenic	13	32910888	32910889	A	AAGGTAACAATTATGAATCTGATGTTG	reviewed by expert panel	ClinGen:CA645372950
Deletion	NM_000059.4(BRCA2):c.3308del (p.Asn1102_Leu1103insTer)	BRCA2	Pathogenic	13	32911798	32911798	AT	A	reviewed by expert panel	ClinGen:CA645372954
single nucleotide variant	NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)	BRCA2	Pathogenic	13	32911820	32911820	G	T	reviewed by expert panel	ClinGen:CA387776265
Deletion	NM_000059.4(BRCA2):c.3454_3455del (p.Leu1152fs)	BRCA2	Pathogenic	13	32911946	32911947	CTT	C	reviewed by expert panel	ClinGen:CA645372956
Deletion	NM_000059.4(BRCA2):c.3481_3491del (p.Asp1161fs)	BRCA2	Pathogenic	13	32911973	32911983	AGATGCTGATCT	A	reviewed by expert panel	ClinGen:CA645372957