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.80+2T>A	BRCA1	Pathogenic	17	41276032	41276032	A	T	criteria provided, single submitter	ClinGen:CA10601995
single nucleotide variant	NM_007294.4(BRCA1):c.3G>C (p.Met1Ile)	BRCA1	Pathogenic	17	41276111	41276111	C	G	criteria provided, single submitter	ClinGen:CA10602152
single nucleotide variant	NM_007294.4(BRCA1):c.-19-2A>G	BRCA1	Pathogenic	17	41276134	41276134	T	C	criteria provided, single submitter	ClinGen:CA10602608
Deletion	NM_007294.4(BRCA1):c.4987-577_5074+343del	BRCA1	Pathogenic	17	41219282	41220289	TTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCG	T	criteria provided, single submitter	ClinGen:CA10602610
single nucleotide variant	NM_007294.4(BRCA1):c.213-1G>T	BRCA1	Pathogenic	17	41256974	41256974	C	A	criteria provided, single submitter	ClinGen:CA10601740
Insertion	NM_007294.4(BRCA1):c.134+3_134+4insT	BRCA1	Pathogenic	17	41267739	41267740	T	TA	criteria provided, single submitter	ClinGen:CA10602611
Duplication	NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)	BRCA2	Pathogenic	13	32914046	32914047	G	GT	reviewed by expert panel	ClinGen:CA10603292
Duplication	NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs)	BRCA1	Pathogenic	17	41245043	41245044	A	ATGTCCCAATGGATACTT	reviewed by expert panel	ClinGen:CA10603376
Duplication	NM_000059.4(BRCA2):c.308dup (p.Leu103fs)	BRCA2	Pathogenic/Likely pathogenic	13	32893452	32893453	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042136
Deletion	NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)	BRCA2	Likely pathogenic	13	32911568	32911569	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042138