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
Duplication	NM_002878.4(RAD51D):c.728dup (p.Met243fs)	RAD51D	Likely pathogenic	17	33430282	33430283	C	CA	criteria provided, single submitter	ClinGen:CA16615598
Deletion	NM_007294.4(BRCA1):c.2311_2317del (p.Pro773fs)	BRCA1	Pathogenic	17	41245231	41245237	GGTACCAA	G	reviewed by expert panel	ClinGen:CA16615675
Duplication	NM_007294.4(BRCA1):c.1949dup (p.Lys652fs)	BRCA1	Pathogenic	17	41245598	41245599	T	TA	reviewed by expert panel	ClinGen:CA16615679
Deletion	NM_007294.4(BRCA1):c.744del (p.Thr249fs)	BRCA1	Pathogenic	17	41246804	41246804	TG	T	reviewed by expert panel	ClinGen:CA16615693
Deletion	NM_007294.4(BRCA1):c.460_467del (p.Val154fs)	BRCA1	Pathogenic	17	41251872	41251879	GAGTTGGAC	G	reviewed by expert panel	ClinGen:CA16615701
single nucleotide variant	NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)	RAD51D	Likely pathogenic	17	33428222	33428222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615706
single nucleotide variant	NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)	RAD51D	Pathogenic	17	33428320	33428320	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA501240,OMIM:602954.0002
single nucleotide variant	NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser)	BRCA1	Likely pathogenic	17	41209087	41209087	T	A	criteria provided, single submitter	ClinGen:CA10591036
Deletion	NM_058216.3(RAD51C):c.732del (p.Ile244fs)	RAD51C	Pathogenic/Likely pathogenic	17	56787245	56787245	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615746
Indel	NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs)	BRCA1	Pathogenic	17	41245418	41245418	A	TT	reviewed by expert panel	ClinGen:CA16615778