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.8549T>A (p.Leu2850Ter)	ATM	Pathogenic/Likely pathogenic	11	108216600	108216600	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579304
single nucleotide variant	NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)	ATM	Pathogenic/Likely pathogenic	11	108216616	108216616	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266379,UniProtKB:Q13315#VAR_010883
single nucleotide variant	NM_000051.4(ATM):c.8584+1G>A	ATM	Pathogenic/Likely pathogenic	11	108216636	108216636	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579306
single nucleotide variant	NM_000051.4(ATM):c.8585-1G>A	ATM	Likely pathogenic	11	108218005	108218005	G	A	criteria provided, single submitter	ClinGen:CA10579307
Duplication	NM_000051.4(ATM):c.8624dup (p.Asn2875fs)	ATM	Pathogenic	11	108218043	108218044	G	GA	criteria provided, single submitter	ClinGen:CA10579310
single nucleotide variant	NM_000051.4(ATM):c.8672-1G>T	ATM	Likely pathogenic	11	108224492	108224492	G	T	criteria provided, single submitter	ClinGen:CA10579314
single nucleotide variant	NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)	ATM	Pathogenic/Likely pathogenic	11	108224558	108224558	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579315
Duplication	NM_000051.4(ATM):c.8766dup (p.Val2923fs)	ATM	Pathogenic	11	108224586	108224587	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579317
Deletion	NM_000051.4(ATM):c.8802del (p.Met2935fs)	ATM	Pathogenic/Likely pathogenic	11	108225552	108225552	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579320
Duplication	NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)	ATM	Pathogenic	11	108225568	108225569	A	AAACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579321