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.4676-1G>T	BRCA1	Pathogenic	17	41223256	41223256	C	A	criteria provided, single submitter	ClinGen:CA10592155
single nucleotide variant	NM_007294.4(BRCA1):c.4675+2T>C	BRCA1	Pathogenic	17	41226346	41226346	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10592159
single nucleotide variant	NM_007294.4(BRCA1):c.4675+2T>A	BRCA1	Pathogenic	17	41226346	41226346	A	T	criteria provided, single submitter	ClinGen:CA10592160
single nucleotide variant	NM_007294.4(BRCA1):c.4675+1G>C	BRCA1	Pathogenic	17	41226347	41226347	C	G	criteria provided, single submitter	ClinGen:CA10592161
Deletion	NM_007294.4(BRCA1):c.4674del (p.Glu1559fs)	BRCA1	Pathogenic	17	41226349	41226349	CT	C	reviewed by expert panel	ClinGen:CA10602587
single nucleotide variant	NM_007294.4(BRCA1):c.4485-1G>C	BRCA1	Pathogenic	17	41226539	41226539	C	G	criteria provided, single submitter	ClinGen:CA10592559
single nucleotide variant	NM_007294.4(BRCA1):c.4484+5G>C	BRCA1	Pathogenic	17	41228500	41228500	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602588
single nucleotide variant	NM_007294.4(BRCA1):c.4484+1G>T	BRCA1	Pathogenic	17	41228504	41228504	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10592565
Duplication	NM_007294.4(BRCA1):c.4186-1787_4358-1668dup	BRCA1	Pathogenic	17	41230298	41230299	T	TACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGACCTTTGGACTGTAAAAAAAAAGAAAAGTCATTCTATCACCAGAACATTTAGCATATAAATTCCTCTTCTTACTACAATGGGCCTCATGCAATGAAGCAAATAAGATAACTTGTTAGAAGTTAACAACTCAATAGAACCTGAAAAACAGAGCAAAACCTTTCTGCTTTTTTTTCTCCTTAATCCTTAATTCATTCTCTGAACAGCAAGCCCAACCTAAGCCTTGTGACATGATGATCTACTTGCTGGCTGGTTTAGGAAAGTCTAAATGCAGAGATCCAGAGTCCAAGTTTCAGAATATTATTGTAGTTCCTCTTAAATCATTCCCTCATCTAGATGTCTTAACATGTTACATTCTTTGTGGATAGGAAGTATGGGCCACACCAAACATTTAATAAACTTACAGACTGCCCACTGTGTGCTAAGCATTGTACAGGGTATTGTGAAGAATTAAGGAAGACACTGGAAGACAACAGATATTAAGAAATAATAAACTAGGCCAGGCACCGTAGCTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTC	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.4186-1643_4357+2020del	BRCA1	Pathogenic	17	41232401	41236235	GATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAA	G	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):4305-1643&base_change=del 3835,ClinGen:CA10602590