{{Rsnum
|rsid=4986764
|Gene=BRIP1
|Chromosome=17
|position=61685986
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.3269
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=BRIP1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 34.8 | 50.9 | 14.3
| HCB | 58.4 | 35.0 | 6.6
| JPT | 68.8 | 27.7 | 3.6
| YRI | 45.9 | 43.8 | 10.3
| ASW | 56.1 | 35.1 | 8.8
| CHB | 58.4 | 35.0 | 6.6
| CHD | 50.5 | 42.2 | 7.3
| GIH | 20.8 | 46.5 | 32.7
| LWK | 51.4 | 41.3 | 7.3
| MEX | 58.6 | 36.2 | 5.2
| MKK | 29.5 | 54.5 | 16.0
| TSI | 31.4 | 55.9 | 12.7
| HapMapRevision=28
}}

{{Venter SNP
|rsid=4986764
|allele=G
|frequency=0.45
|uid=1103645357729
|type=heterozygous_SNP
|hugo=BRIP1
|ensembl gene=ENSG00000136492
|ensembl transcript=ENST00000259008
|sift=
|disease=Defects in BRIP1 are a cause of Fanconi anemia (FA) (MIM:227650). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopaenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.
}}

{{PMID|15113441|OA=1
}} Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

{{PMID|19127258|OA=1
}} A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

{{PMID|19138047|OA=1
}} Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

{{PMID|19276285|OA=1
}} Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

{{GET Evidence
|gene=BRIP1
|aa_change=Ser919Pro
|aa_change_short=S919P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4986764
|overall_frequency_n=6583
|overall_frequency_d=10758
|overall_frequency=0.611917
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=79
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=5
}}

{{PMID Auto
|PMID=23473757
|Title=BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer
}}

{{PMID Auto
|PMID=24301948
|Title=Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}