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.5114_5121del (p.Leu1705fs)	BRCA1	Pathogenic	17	41215922	41215929	CAATTCCTA	C	reviewed by expert panel	ClinGen:CA10589618
Insertion	NM_007294.4(BRCA1):c.5083_5084insG (p.Phe1695fs)	BRCA1	Pathogenic	17	41215959	41215960	A	AC	reviewed by expert panel	ClinGen:CA10589619
Deletion	NM_007294.4(BRCA1):c.5076del (p.Asp1692fs)	BRCA1	Pathogenic	17	41215967	41215967	CA	C	reviewed by expert panel	ClinGen:CA10589620
Deletion	NM_007294.4(BRCA1):c.4987_5074del (p.Val1665Serfs)	BRCA1	Pathogenic	17	41219625	41219712	CCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCAT	C	reviewed by expert panel	LOVD 3:BRCA1_003367,ClinGen:CA10589621
Duplication	NM_007294.4(BRCA1):c.5065dup (p.Met1689fs)	BRCA1	Pathogenic	17	41219633	41219634	A	AT	reviewed by expert panel	ClinGen:CA10589622
Insertion	NM_007294.4(BRCA1):c.5058_5059insCAAC (p.Val1687fs)	BRCA1	Pathogenic	17	41219640	41219641	C	CGTTG	reviewed by expert panel	ClinGen:CA10589623
Indel	NM_007294.4(BRCA1):c.5044_5048delinsT (p.Thr1681_Glu1682insTer)	BRCA1	Pathogenic	17	41219651	41219655	TCTTC	A	reviewed by expert panel	ClinGen:CA10589624
Insertion	NM_007294.4(BRCA1):c.5041_5042insTTAA (p.Thr1681fs)	BRCA1	Pathogenic	17	41219657	41219658	G	GTTAA	reviewed by expert panel	ClinGen:CA10589625
Deletion	NM_007294.4(BRCA1):c.5042del (p.Thr1681fs)	BRCA1	Pathogenic	17	41219657	41219657	AG	A	reviewed by expert panel	ClinGen:CA10589626
Duplication	NM_007294.4(BRCA1):c.5038_5041dup (p.Thr1681fs)	BRCA1	Pathogenic	17	41219657	41219658	G	GTAAT	reviewed by expert panel	ClinGen:CA10589627