遺伝性乳がん (ATM/CHEK2)

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_000051.4(ATM):c.6348-2A>G	ATM	Likely pathogenic	11	108190679	108190679	A	G	criteria provided, single submitter	ClinGen:CA348351
Insertion	NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	ATM	Pathogenic/Likely pathogenic	11	108190736	108190737	C	CTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA350459
Deletion	NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)	ATM	Pathogenic	11	108196112	108196119	ATTTTAGTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350257
Deletion	NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)	ATM	Pathogenic	11	108198405	108198406	ATG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349869
single nucleotide variant	NM_000051.4(ATM):c.7789-3T>G	ATM	Pathogenic/Likely pathogenic	11	108203486	108203486	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA350818
Deletion	NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)	ATM	Pathogenic	11	108235830	108235831	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350133
single nucleotide variant	NM_000051.4(ATM):c.8988-1G>A	ATM	Pathogenic/Likely pathogenic	11	108236051	108236051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348186
single nucleotide variant	NM_007194.4(CHEK2):c.846+1G>C	CHEK2	Pathogenic/Likely pathogenic	22	29105993	29105993	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA350863
Duplication	NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)	CHEK2	Pathogenic	22	29121073	29121074	C	CTTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA350083
single nucleotide variant	NM_007194.4(CHEK2):c.320-1G>C	CHEK2	Likely pathogenic	22	29121356	29121356	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA348175