Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 p.Ser267LysfsTer19 (p.S267Kfs*19) ( ENST00000591849.5, ENST00000634433.2, ENST00000618469.2, ENST00000586385.5, ENST00000491747.6, ENST00000470026.6, ENST00000644379.2, ENST00000713676.1, ENST00000700182.1, ENST00000476777.6, ENST00000489037.2, ENST00000477152.6, ENST00000644555.2, ENST00000468300.5, ENST00000473961.6, ENST00000493795.5, ENST00000478531.6, ENST00000484087.6, ENST00000494123.6, ENST00000461574.2, ENST00000357654.9, ENST00000591534.5, ENST00000497488.2, ENST00000471181.7, ENST00000493919.6, ENST00000352993.7 )
BRCA1 p.Ser267LysfsTer19 (p.S267Kfs*19) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
BRCA1 p.Asp1799Tyr (p.D1799Y) ( ENST00000586385.5, ENST00000618469.2, ENST00000470026.6, ENST00000491747.6, ENST00000713676.1, ENST00000644379.2, ENST00000591849.5, ENST00000634433.2, ENST00000489037.2, ENST00000476777.6, ENST00000493795.5, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000477152.6, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5, ENST00000493919.6, ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000591534.5, ENST00000471181.7, ENST00000497488.2 )
BRCA1 p.Asp1799His (p.D1799H) ( ENST00000476777.6, ENST00000489037.2, ENST00000591849.5, ENST00000634433.2, ENST00000491747.6, ENST00000470026.6, ENST00000618469.2, ENST00000586385.5, ENST00000644379.2, ENST00000713676.1, ENST00000461574.2, ENST00000357654.9, ENST00000497488.2, ENST00000471181.7, ENST00000591534.5, ENST00000493919.6, ENST00000352993.7, ENST00000477152.6, ENST00000644555.2, ENST00000468300.5, ENST00000473961.6, ENST00000493795.5, ENST00000478531.6, ENST00000484087.6, ENST00000494123.6 )
BRCA1 p.Asp1799Asn (p.D1799N) ( ENST00000352993.7, ENST00000357654.9, ENST00000468300.5, ENST00000591534.5, ENST00000471181.7, ENST00000591849.5, ENST00000586385.5, ENST00000493795.5, ENST00000491747.6, ENST00000461574.2, ENST00000470026.6, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 )
BRCA1 p.Asp1799Tyr (p.D1799Y) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 )
BRCA1 p.Asp1799His (p.D1799H) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 )
BRCA1 p.Asp1799Asn (p.D1799N) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in trans with the deleterious BRCA1 mutation c.798_799delTT/p.Ser267LysfsX19 in young breast cancer patient.
Pubmed
22684231
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2012
Drugs