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.5075_5152del (p.Asp1692_Trp1718delinsGly)	BRCA1	Pathogenic	17	41215891	41215968	CAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCAT	C	criteria provided, single submitter	ClinGen:CA645373156
single nucleotide variant	NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)	BRCA1	Likely pathogenic	17	41219639	41219639	A	C	criteria provided, single submitter	ClinGen:CA10591398
Deletion	NM_007294.4(BRCA1):c.4903del (p.Glu1635fs)	BRCA1	Pathogenic	17	41223028	41223028	TC	T	reviewed by expert panel	ClinGen:CA645373142
Deletion	NM_007294.4(BRCA1):c.4487_4675+2del	BRCA1	Pathogenic	17	41226346	41226536	TACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATG	T	criteria provided, single submitter	ClinGen:CA645372633
single nucleotide variant	NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)	BRCA1	Pathogenic	17	41226357	41226357	G	A	reviewed by expert panel	ClinGen:CA10592179
single nucleotide variant	NM_007294.4(BRCA1):c.4485-2A>T	BRCA1	Likely pathogenic	17	41226540	41226540	T	A	criteria provided, single submitter	ClinGen:CA10592560
Deletion	NM_007294.4(BRCA1):c.3334del (p.Glu1112fs)	BRCA1	Pathogenic	17	41244214	41244214	TC	T	reviewed by expert panel	ClinGen:CA645373181
Deletion	NM_007294.4(BRCA1):c.1994del (p.Asn665fs)	BRCA1	Pathogenic	17	41245554	41245554	GT	G	reviewed by expert panel	ClinGen:CA645373192
Deletion	NM_007294.4(BRCA1):c.1310_1313del (p.His437fs)	BRCA1	Pathogenic	17	41246235	41246238	CTCAT	C	reviewed by expert panel	ClinGen:CA645373207
Duplication	NM_007294.4(BRCA1):c.695dup (p.Asp232fs)	BRCA1	Pathogenic	17	41246852	41246853	A	AT	reviewed by expert panel	ClinGen:CA645373199