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_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)	BRCA2	Pathogenic	13	32944570	32944570	G	A	reviewed by expert panel	ClinGen:CA025603
single nucleotide variant	NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)	BRCA2	Likely pathogenic	13	32944570	32944570	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025604
single nucleotide variant	NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter)	BRCA2	Pathogenic	13	32944571	32944571	G	A	reviewed by expert panel	ClinGen:CA025605
single nucleotide variant	NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32944584	32944584	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025613
Indel	NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)	BRCA2	Pathogenic	13	32944601	32944603	TAG	AA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8622&base_change=del TAG ins AA,ClinGen:CA025623
Deletion	NM_000059.4(BRCA2):c.8395del (p.Arg2799fs)	BRCA2	Pathogenic	13	32944602	32944602	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8623&base_change=del A,ClinGen:CA025624
Deletion	NM_000059.4(BRCA2):c.8415_8416del (p.Leu2805fs)	BRCA2	Pathogenic	13	32944621	32944622	TTA	T	reviewed by expert panel	ClinGen:CA025631
Duplication	NM_000059.4(BRCA2):c.8415dup (p.Ser2806fs)	BRCA2	Pathogenic	13	32944621	32944622	T	TA	reviewed by expert panel	ClinGen:CA025632
Duplication	NM_000059.4(BRCA2):c.8436dup (p.Gly2813fs)	BRCA2	Pathogenic	13	32944642	32944643	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8664&base_change=ins A,ClinGen:CA025644
single nucleotide variant	NM_000059.4(BRCA2):c.8451T>A (p.Cys2817Ter)	BRCA2	Pathogenic	13	32944658	32944658	T	A	reviewed by expert panel	ClinGen:CA025650