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.3117del (p.Ser1040fs)	BRCA1	Pathogenic	17	41244431	41244431	TG	T	criteria provided, single submitter	ClinGen:CA658656626
single nucleotide variant	NM_007294.4(BRCA1):c.547+1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41251791	41251791	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601039
Deletion	NM_007294.4(BRCA1):c.105_134+1007del	BRCA1	Pathogenic	17	41266736	41267772	TTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAG	T	criteria provided, single submitter	ClinGen:CA658656684
Deletion	NC_000017.11:g.(?_43057046)_(43057141_?)del	BRCA1	Pathogenic	17	41209063	41209158	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41209063)_(41209158_?)dup	BRCA1	Likely pathogenic	17	41209063	41209158	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104116)_(43124102_?)del	BRCA1	Pathogenic	17	41256133	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58692638)_(58734228_?)del	RAD51C	Pathogenic	17	56769999	56811589	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_56798101)_(56798179_?)dup	RAD51C	Likely pathogenic	17	56798101	56798179	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter)	RAD51C	Pathogenic	17	56772458	56772458	T	A	criteria provided, single submitter	ClinGen:CA400341116
Deletion	NC_000017.11:g.(?_43045672)_(43047709_?)del	BRCA1	Pathogenic	17	41197689	41199726	na	na	criteria provided, single submitter	-