遺伝性乳がん・卵巣がん症候群

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
Deletion	NM_007294.4(BRCA1):c.4712del (p.Phe1571fs)	BRCA1	Pathogenic	17	41223219	41223219	GA	G	reviewed by expert panel	ClinGen:CA10575941
Insertion	NM_007294.4(BRCA1):c.4069_4070insTTGA (p.Glu1357fs)	BRCA1	Pathogenic	17	41243478	41243479	T	TTCAA	criteria provided, single submitter	ClinGen:CA10575945
Deletion	NM_007294.4(BRCA1):c.3819_3823del (p.Gln1273fs)	BRCA1	Pathogenic	17	41243725	41243729	ATTACC	A	reviewed by expert panel	ClinGen:CA10575946
single nucleotide variant	NM_007294.4(BRCA1):c.2570T>A (p.Leu857Ter)	BRCA1	Pathogenic	17	41244978	41244978	A	T	reviewed by expert panel	ClinGen:CA10575948
Insertion	NM_007294.4(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs)	BRCA1	Pathogenic	17	41244991	41244992	C	CGAAAAGTGAA	criteria provided, single submitter	ClinGen:CA10575949
Duplication	NM_007294.4(BRCA1):c.1299dup (p.Ser434fs)	BRCA1	Pathogenic	17	41246248	41246249	T	TG	reviewed by expert panel	ClinGen:CA10575951
Deletion	NM_007294.4(BRCA1):c.519del (p.Gln174fs)	BRCA1	Pathogenic	17	41251820	41251820	GA	G	reviewed by expert panel	ClinGen:CA10575953
single nucleotide variant	NM_007294.4(BRCA1):c.213-2A>G	BRCA1	Pathogenic	17	41256975	41256975	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575954
single nucleotide variant	NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)	BRCA1	Pathogenic/Likely pathogenic	17	41258493	41258493	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575955
Deletion	NM_007294.4(BRCA1):c.81_134del (p.Cys27_Lys45delinsTer)	BRCA1	Pathogenic	17	41267743	41267796	CTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA	C	reviewed by expert panel	ClinGen:CA10575956