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
Duplication	NM_000051.4(ATM):c.3880dup (p.Ile1294fs)	ATM	Pathogenic/Likely pathogenic	11	108155086	108155087	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041405
Deletion	NM_000051.4(ATM):c.3990del (p.Lys1330fs)	ATM	Likely pathogenic	11	108155194	108155194	GA	G	criteria provided, single submitter	ClinGen:CA16041406
single nucleotide variant	NM_000051.4(ATM):c.3993+1G>T	ATM	Pathogenic/Likely pathogenic	11	108155201	108155201	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041407
single nucleotide variant	NM_000051.4(ATM):c.3994-1G>T	ATM	Likely pathogenic	11	108158326	108158326	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041408
Deletion	NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)	ATM	Pathogenic/Likely pathogenic	11	108158349	108158359	AATTTACCAGAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041409
single nucleotide variant	NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter)	ATM	Likely pathogenic	11	108160338	108160338	C	T	criteria provided, single submitter	ClinGen:CA16041410
Deletion	NM_000051.4(ATM):c.4695del (p.Pro1566fs)	ATM	Likely pathogenic	11	108164120	108164120	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041411
single nucleotide variant	NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)	ATM	Pathogenic/Likely pathogenic	11	108164160	108164160	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265531
single nucleotide variant	NM_000051.4(ATM):c.4776+2T>A	ATM	Pathogenic/Likely pathogenic	11	108164206	108164206	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041412
Indel	NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)	ATM	Likely pathogenic	11	108170565	108170566	GA	AC	criteria provided, single submitter	ClinGen:CA16041414