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.8585-2A>C	ATM	Pathogenic	11	108218004	108218004	A	C	reviewed by expert panel	ClinGen:CA16613454
Deletion	NM_000051.4(ATM):c.8786_8786+3del	ATM	Likely pathogenic	11	108224606	108224609	AAGGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613455
Deletion	NM_000051.4(ATM):c.6080del (p.Leu2027fs)	ATM	Pathogenic	11	108186622	108186622	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613460
Duplication	NM_000051.4(ATM):c.6463_6478dup (p.Lys2160delinsSerGlyArgAspValTer)	ATM	Pathogenic	11	108192036	108192037	A	AAGTGGAAGAGATGTGT	criteria provided, single submitter	ClinGen:CA16613471
Deletion	NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)	ATM	Pathogenic	11	108199949	108199950	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613490
single nucleotide variant	NM_000051.4(ATM):c.8122G>C (p.Asp2708His)	ATM	Likely pathogenic	11	108205807	108205807	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613497
single nucleotide variant	NM_000051.4(ATM):c.8418+2T>C	ATM	Likely pathogenic	11	108214100	108214100	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613510
Deletion	NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)	ATM	Pathogenic	11	108216485	108216486	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266370
Deletion	NC_000022.11:g.(?_28699838)_(28703566_?)del	CHEK2	Likely pathogenic	22	29095826	29099554	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28703505)_(28703566_?)del	CHEK2	Pathogenic	22	29099493	29099554	na	na	criteria provided, single submitter	-