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NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) AND BRIP1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 10, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004529950.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)]

NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)

Gene:
BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
Other names:
p.R855H:CGC>CAC
HGVS:
  • NC_000017.11:g.61693441C>T
  • NG_007409.2:g.175119G>A
  • NM_032043.3:c.2564G>AMANE SELECT
  • NP_114432.2:p.Arg855His
  • NP_114432.2:p.Arg855His
  • LRG_300t1:c.2564G>A
  • LRG_300:g.175119G>A
  • LRG_300p1:p.Arg855His
  • NC_000017.10:g.59770802C>T
  • NM_032043.2:c.2564G>A
  • p.R855H
Protein change:
R855H
Links:
dbSNP: rs200894063
NCBI 1000 Genomes Browser:
rs200894063
Molecular consequence:
  • NM_032043.3:c.2564G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BRIP1-related disorder
Synonyms:
BRIP1-Related Disorders; BRIP1-related condition
Identifiers:
MedGen: CN239206

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114430PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Sep 10, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114430.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRIP1 c.2564G>A variant is predicted to result in the amino acid substitution p.Arg855His. This variant has been reported in individuals with a history of breast, pancreatic, and Lynch syndrome-associated cancers (Supplemental Table 2, Yurgelun et al. 2015. PubMed ID: 25980754; Easton et al. 2016. PubMed ID: 26921362; Supporting Table 1, Dudley et al. 2018. PubMed ID: 29360161; Table S3, Weitzel et al. 2019. PubMed ID: 31206626; Table S22, Dorling et al. 2021. PubMed ID: 33471991). However, it has also been reported in control cohorts (Supplementary Table 4, Ramus et al. 2015. PubMed ID: 26315354; Table S3, Weitzel et al. 2019. PubMed ID: 31206626; Table S22, Dorling et al. 2021. PubMed ID: 33471991). This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD and is interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/128175/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024