Variant
BRIP1 E472X
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
- p.Glu472Ter
- p.E472*
- rs1555605902
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 11 August 2025
Data current to ClinVar release 2026-10-19 · Dante Labs data release 2026.10.21-311f020eFacts last changed 21 October 2026
Share this page
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/brip1/variants/e472x.json"
page <- fromJSON(url)
page$variant$nameSummary
E472X 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 cancerClinVar VCV000479409 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 11 August 2025 |
Classifications as ClinVar records them in release 2026-10-19. ClinVar updates them as evidence is reviewed.
ACMG/AMP criteria
The ACMG/AMP criteria E472X meets, from its predicted effect in BRIP1, gnomAD and ClinVar.
| Criterion | Strength | Points | Rests on |
|---|---|---|---|
| PVS1Null variant where loss of function causes disease | Very strong | +8 | stop_gained on NM_032043.3Expected to cause nonsense-mediated decay |
| PM2Absent or very rare in population databases | Supporting | +1 | Not seen in gnomAD exomes, gnomAD genomes |
| PP5A reputable source reports it as pathogenic | Supporting | Not counted | ClinVar: Pathogenic (criteria provided, multiple submitters, no conflicts) |
On these criteria alone: +9 points, likely pathogenic.
Assessed automatically, without functional, computational or family evidence. Not a clinical classification.
Population frequency
How often E472X is seen among the people whose exomes and genomes gnomAD 4.1 brings together.
| Dataset | Allele frequency | Allele count | Homozygotes | Commonest in |
|---|---|---|---|---|
| gnomAD exomes | Not seen | 0 of 0 | 0 | |
| gnomAD genomes | Not seen | 0 of 0 | 0 |
Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result.
Molecular details
| Gene | BRIP1 |
|---|---|
| Transcript | NM_032043.3MANE Select |
| Coding DNA change (HGVS c.) | c.1414G>T |
| Protein change (HGVS p.) | p.Glu472Terp.E472* |
| Predicted consequence | Nonsense (stop gained)stop_gained (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr17:61793656 C>A |
| Position (GRCh37) | chr17:59871017 C>A |
| dbSNP ID | rs1555605902 (opens in a new tab) |
| ClinVar Variation ID | VCV000479409 (opens in a new tab) |
| ClinVar Allele ID | 479197 |
| ClinGen Allele Registry ID | CA400482158 (opens in a new tab) |
| ClinVar name | NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter) |
BRIP1 E472X in other databases
Reports that look at this variant (1)
These Genome Test condition reports include E472X among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Breast and Ovarian Cancer Genes Beyond BRCA1/2 | Hereditary breast cancer | Autosomal dominant |
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 2026-10-19), 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 2026-10-21-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-21).
- 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 2026.10.21-311f020e of 21 October 2026.
Cite this page
Dante Labs. (21 October 2026). BRIP1 E472X (c.1414G>T, rs1555605902) (Version 2026.10.21-311f020e). Retrieved 21 October 2026, from https://dantelabs.com/genes/brip1/variants/e472x
Dante Labs. BRIP1 E472X (c.1414G>T, rs1555605902) [Internet]. Version 2026.10.21-311f020e. 21 October 2026 [cited 21 October 2026]. Available from: https://dantelabs.com/genes/brip1/variants/e472x
Read your whole genome
From $449Free shipping · Results in 6–8 weeks