--- title: "BRIP1 D736X (c.2205dup, rs1555591385) | Dante Labs" description: "ClinVar classifies BRIP1 D736X as Pathogenic (criteria provided, multiple submitters, no conflicts). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/brip1/variants/d736x" --- 1. [Genes](https://dantelabs.com/genes) 2. [BRIP1](https://dantelabs.com/genes/brip1) 3. BRIP1 D736X Variant # BRIP1 D736X NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter) Also known as - p.Asp736Ter - p.D736\* - rs1555591385 * ClinVar classification Pathogenic * Review status 2 stars out of 4 criteria provided, multiple submitters, no conflicts * Last evaluated 6 June 2023 Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary D736X is a nonsense variant in BRIP1: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for Hereditary breast cancer (criteria provided, multiple submitters, no conflicts). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | --------------------------------------------------------------------- | ------------- | -------------- | | [Hereditary breast cancer](https://dantelabs.com/conditions/moderate-penetrance-breast-ovarian-cancer-genes) [ClinVar VCV000546045 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/546045/) | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | 2 submissions | 6 June 2023 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in BRIP1 D736X lies in exon 15 of the 20 in BRIP1's MANE Select transcript, NM_032043.3. [BRIP1 variants in exon 15 →](https://dantelabs.com/genes/brip1/variants?exon=15) [BRIP1's gene diagram →](https://dantelabs.com/genes/brip1#gene-structure) ## Molecular details | Gene | [BRIP1](https://dantelabs.com/genes/brip1) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_032043.3 MANE Select | | Coding DNA change (HGVS c.) | c.2205dup | | Protein change (HGVS p.) | p.Asp736Ter p.D736\* | | Predicted consequence | Nonsense (stop gained) [stop_gained (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001587) | | Predicted impact | High | | Position (GRCh38) | chr17:61744483 C>CA | | Position (GRCh37) | chr17:59821844 C>CA | | dbSNP ID | [rs1555591385 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1555591385) | | ClinVar Variation ID | [VCV000546045 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/546045/) | | ClinVar Allele ID | 536508 | | ClinGen Allele Registry ID | [CA658824413 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA658824413) | | ClinVar name | NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter) | ## BRIP1 D736X in other databases - [ClinVar VCV000546045 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/546045/) - [dbSNP rs1555591385 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1555591385) - [ClinGen Allele Registry CA658824413 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA658824413) - [gnomAD 17-61744483-C-CA (opens in a new tab)](https://gnomad.broadinstitute.org/variant/17-61744483-C-CA?dataset=gnomad_r4) - [Ensembl rs1555591385 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs1555591385) ## Reports that look at this variant (1) These Genome Test condition reports include D736X among the variants they look at. | Report | Conditions | Inheritance | | ---------------------------------------------------------------------------------------------------------------------------------- | ------------------------ | ------------------ | | [Breast and Ovarian Cancer Genes Beyond BRCA1/2](https://dantelabs.com/conditions/moderate-penetrance-breast-ovarian-cancer-genes) | Hereditary breast cancer | Autosomal dominant | ## Other variants in BRIP1 - [A27Cfs\*42 Pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/a27cfs42) - [A349P Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/a349p) - [A402Sfs\*19 Pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/a402sfs19) - [A402Vfs\*21 Pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/a402vfs21) - [A551Kfs\*41 Pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/a551kfs41) - [A759Sfs\*6 Pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/a759sfs6) - [c.66C>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/c-66c-a) - [c.73_93+14del Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/c-73to93plus14del) - [c.93+1G>A Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/c-93plus1g-a) - [c.93+1G>C Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/brip1/variants/c-93plus1g-c) [All BRIP1 variants](https://dantelabs.com/genes/brip1/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). BRIP1 D736X (c.2205dup, rs1555591385) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/brip1/variants/d736x Vancouver > Dante Labs. BRIP1 D736X (c.2205dup, rs1555591385) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/brip1/variants/d736x Download citation [RIS](https://dantelabs.com/genes/brip1/variants/d736x/cite.ris) [BibTeX](https://dantelabs.com/genes/brip1/variants/d736x/cite.bib) [CSL-JSON](https://dantelabs.com/genes/brip1/variants/d736x/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)