Variant
BRIP1 E626D
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)
- p.Glu626Asp
- p.E626D
- rs1567812484
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 23 February 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
E626D is a missense variant in BRIP1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Fanconi anemia complementation group J (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Fanconi anemia complementation group JClinVar VCV000920730 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 23 February 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in BRIP1
E626D lies in exon 13 of the 20 in BRIP1's MANE Select transcript, NM_032043.3.
Molecular details
| Gene | BRIP1 |
|---|---|
| Transcript | NM_032043.3MANE Select |
| Coding DNA change (HGVS c.) | c.1878A>T |
| Protein change (HGVS p.) | p.Glu626Aspp.E626D |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr17:61780318 T>A |
| Position (GRCh37) | chr17:59857679 T>A |
| dbSNP ID | rs1567812484 (opens in a new tab) |
| ClinVar Variation ID | VCV000920730 (opens in a new tab) |
| ClinVar Allele ID | 914090 |
| ClinGen Allele Registry ID | CA400480043 (opens in a new tab) |
| ClinVar name | NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp) |
BRIP1 E626D in other databases
Reports that look at this variant (2)
These Genome Test condition reports include E626D among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| DNA Repair Disease | Dna Repair Disease | Autosomal recessive |
| Fanconi Anemia | Fanconi Anemia | Autosomal recessive |
Other variants in BRIP1
- A27Cfs*42Pathogenic2 stars out of 4
- A349PLikely pathogenic2 stars out of 4
- A402Sfs*19Pathogenic2 stars out of 4
- A402Vfs*21Pathogenic2 stars out of 4
- A551Kfs*41Pathogenic2 stars out of 4
- A759Sfs*6Pathogenic2 stars out of 4
- c.66C>APathogenic2 stars out of 4
- c.73_93+14delLikely pathogenic2 stars out of 4
- c.93+1G>ALikely pathogenic2 stars out of 4
- c.93+1G>CLikely pathogenic2 stars out of 4
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
Dante Labs. (16 October 2026). BRIP1 E626D (c.1878A>T, rs1567812484) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/brip1/variants/e626d
Dante Labs. BRIP1 E626D (c.1878A>T, rs1567812484) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/brip1/variants/e626d
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