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.1058_1062del (p.Glu352_Trp353insTer)	BRCA1	Pathogenic	17	41246486	41246490	TATTCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798851
Deletion	NM_007294.4(BRCA1):c.3648_3652del (p.Leu1216_Ser1217insTer)	BRCA1	Pathogenic	17	41243896	41243900	CTAGAT	C	reviewed by expert panel	ClinGen:CA658798841
Deletion	NM_007294.4(BRCA1):c.536_547+165del	BRCA1	Pathogenic	17	41251627	41251803	GGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGT	G	criteria provided, single submitter	ClinGen:CA658798863
Duplication	NM_007294.4(BRCA1):c.1480dup (p.Gln494fs)	BRCA1	Pathogenic	17	41246067	41246068	T	TG	criteria provided, single submitter	ClinGen:CA658798843
Deletion	NM_007294.4(BRCA1):c.1230del (p.Asp411fs)	BRCA1	Pathogenic	17	41246318	41246318	CA	C	criteria provided, single submitter	ClinGen:CA658798849
Insertion	NM_007294.4(BRCA1):c.469_470insAT (p.Ser157fs)	BRCA1	Pathogenic	17	41251869	41251870	G	GAT	criteria provided, single submitter	ClinGen:CA658798865
Deletion	NM_007294.4(BRCA1):c.893_894del (p.Asn298fs)	BRCA1	Pathogenic	17	41246654	41246655	CAT	C	criteria provided, single submitter	ClinGen:CA658798855
single nucleotide variant	NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)	RAD51C	Pathogenic	17	56780574	56780574	G	T	criteria provided, single submitter	ClinGen:CA400349143
Duplication	NM_000059.4(BRCA2):c.6149dup (p.Asn2051fs)	BRCA2	Likely pathogenic	13	32914640	32914641	G	GT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs)	BRCA2	Likely pathogenic	13	32944671	32944678	TATTCAAAG	T	criteria provided, single submitter	-