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.8545C>T (p.Arg2849Ter)	ATM	Pathogenic/Likely pathogenic	11	108216596	108216596	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA157183
single nucleotide variant	NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29130652	29130652	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA158093
Deletion	NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	ATM	Pathogenic/Likely pathogenic	11	108117813	108117816	CAAAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165318
single nucleotide variant	NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	ATM	Pathogenic/Likely pathogenic	11	108202764	108202764	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA298062
single nucleotide variant	NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	ATM	Pathogenic/Likely pathogenic	11	108206686	108206686	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA293899
Duplication	NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	ATM	Pathogenic/Likely pathogenic	11	108236142	108236143	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA332369
single nucleotide variant	NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	CHEK2	Pathogenic	22	29130427	29130427	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA163528
Duplication	NM_000051.4(ATM):c.6997dup	ATM	Pathogenic	11	108198392	108198393	T	TA	reviewed by expert panel	ClinGen:CA345709
single nucleotide variant	NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)	ATM	Pathogenic/Likely pathogenic	11	108186590	108186590	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA163663,UniProtKB:Q13315#VAR_010838
Deletion	NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	ATM	Pathogenic/Likely pathogenic	11	108121594	108121595	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA163840