BRIP1 S990A
Gene Variant Detail

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Gene BRIP1
Variant S990A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRIP1 S990A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). S990A maintains the ability to confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line (PMID: 33619228), but results in a loss of interaction with Brca, and inability to control G2-M checkpoint or rescue senescence in Brip1-deficient cells in culture (PMID: 14576433, PMID: 22137763).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 S990A

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Transcript NM_032043.3
gDNA chr17:g.61684077_61684078delAGinsGC
cDNA c.2968_2969delAGinsGC
Protein p.S990A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_032043 chr17:g.61684077_61684078delCTinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38
XM_011525335 chr17:g.61684077_61684078delCTinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61684077_61684078delAGinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61684077_61684078delAGinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61684077_61684078delAGinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61684077_61684078delAGinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61684077_61684078delAGinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61684077_61684078delAGinsGC c.2968_2969delAGinsGC p.S990A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRIP1 S990A Advanced Solid Tumor no benefit Cisplatin Preclinical - Cell culture Actionable In a preclinical study, Platinol (cisplatin) treatment did not inhibit viability of a cell line expressing BRIP1 S990A in culture (PMID: 33619228). 33619228