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.185+1G>A	ATM	Likely pathogenic	11	108098616	108098616	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349320
Duplication	NM_007194.3(CHEK2):c.320-?_592+?dup273	CHEK2	Likely pathogenic	22	29120965	29121355	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.593-1G>A	CHEK2	Likely pathogenic	22	29115474	29115474	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA195907
single nucleotide variant	NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)	ATM	Likely pathogenic	11	108224532	108224532	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA194327,UniProtKB:Q13315#VAR_010889
single nucleotide variant	NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	ATM	Likely pathogenic	11	108143318	108143318	T	C	reviewed by expert panel	ClinGen:CA195169,UniProtKB:Q13315#VAR_077237
single nucleotide variant	NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	ATM	Likely pathogenic	11	108141801	108141801	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195209,UniProtKB:Q13315#VAR_010815
single nucleotide variant	NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	ATM	Likely pathogenic	11	108155055	108155055	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298351
single nucleotide variant	NM_007194.4(CHEK2):c.445-1G>C	CHEK2	Likely pathogenic	22	29121113	29121113	C	G	criteria provided, single submitter	ClinGen:CA169805
single nucleotide variant	NM_007194.4(CHEK2):c.1462-2A>G	CHEK2	Likely pathogenic	22	29085205	29085205	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA168786
single nucleotide variant	NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)	CHEK2	Likely pathogenic	22	29121058	29121058	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294427,UniProtKB:O96017#VAR_019109