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
single nucleotide variant	NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)	BRCA1	Pathogenic/Likely pathogenic	17	41209133	41209133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003365
single nucleotide variant	NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)	BRCA1	Likely pathogenic	17	41209131	41209131	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003366
single nucleotide variant	NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)	BRCA1	Likely pathogenic	17	41209130	41209130	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003367,UniProtKB:P38398#VAR_070507
single nucleotide variant	NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)	BRCA1	Pathogenic/Likely pathogenic	17	41209130	41209130	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003368,UniProtKB:P38398#VAR_070508
single nucleotide variant	NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu)	BRCA1	Likely pathogenic	17	41209129	41209129	A	C	criteria provided, single submitter	ClinGen:CA003370
Deletion	NM_007294.4(BRCA1):c.5229_5230del (p.Arg1744fs)	BRCA1	Pathogenic	17	41209116	41209117	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5348&base_change=del AA,ClinGen:CA003372
Deletion	NM_007294.4(BRCA1):c.5230del (p.Arg1744fs)	BRCA1	Pathogenic	17	41209116	41209116	CT	C	reviewed by expert panel	ClinGen:CA003374
Deletion	NM_007294.4(BRCA1):c.5231del (p.Arg1744fs)	BRCA1	Pathogenic	17	41209115	41209115	TC	T	reviewed by expert panel	ClinGen:CA003375
single nucleotide variant	NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)	BRCA1	Pathogenic	17	41209107	41209107	G	A	reviewed by expert panel	ClinGen:CA003379
single nucleotide variant	NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)	BRCA1	Pathogenic/Likely pathogenic	17	41209103	41209103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003385