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.6181C>T (p.Gln2061Ter)	ATM	Pathogenic	11	108186823	108186823	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382550728
Duplication	NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)	ATM	Pathogenic	11	108190774	108190775	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683719
single nucleotide variant	NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)	ATM	Likely pathogenic	11	108216597	108216597	G	C	reviewed by expert panel	ClinGen:CA382518439
Deletion	NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs)	CHEK2	Pathogenic	22	29085182	29085183	AAC	A	criteria provided, single submitter	ClinGen:CA658684268
Deletion	NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)	CHEK2	Pathogenic	22	29091724	29091748	TCCAGCAGTCCACAGCACGGTTATAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684243
Deletion	NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)	CHEK2	Pathogenic	22	29106022	29106023	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA638800176
single nucleotide variant	NM_007194.4(CHEK2):c.793-2A>G	CHEK2	Pathogenic/Likely pathogenic	22	29106049	29106049	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA411102526
Duplication	NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29115459	29115460	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684256
single nucleotide variant	NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)	CHEK2	Pathogenic	22	29130610	29130610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411091502
Deletion	NM_007194.4(CHEK2):c.86_90del (p.Gln29fs)	CHEK2	Pathogenic	22	29130620	29130624	AGCCTT	A	criteria provided, single submitter	ClinGen:CA658684267