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.8584+2T>C	ATM	Pathogenic/Likely pathogenic	11	108216637	108216637	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298083
single nucleotide variant	NM_000051.4(ATM):c.8988-1G>C	ATM	Pathogenic	11	108236051	108236051	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298332
Duplication	NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091121	29091122	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA299109
single nucleotide variant	NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)	CHEK2	Pathogenic	22	29091134	29091134	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299112
single nucleotide variant	NM_007194.4(CHEK2):c.793-1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29106048	29106048	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299073
single nucleotide variant	NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	CHEK2	Pathogenic	22	29121266	29121266	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299110
Deletion	NM_007194.4(CHEK2):c.405del (p.Lys135fs)	CHEK2	Pathogenic	22	29121270	29121270	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299108
single nucleotide variant	NM_000051.4(ATM):c.1A>C (p.Met1Leu)	ATM	Pathogenic/Likely pathogenic	11	108098352	108098352	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA197028
single nucleotide variant	NM_000051.4(ATM):c.2T>C (p.Met1Thr)	ATM	Pathogenic	11	108098353	108098353	T	C	reviewed by expert panel	ClinGen:CA197209
Deletion	NM_000051.4(ATM):c.138_141del (p.His46fs)	ATM	Pathogenic	11	108098566	108098569	GCATT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA196383