U.S. flag

An official website of the United States government

NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) AND BRIP1-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 10, 2021
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:
RCV004529953.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)]

NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)

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.3378A>C (p.Glu1126Asp)
Other names:
p.E1126D:GAA>GAC
HGVS:
  • NC_000017.11:g.61683668T>G
  • NG_007409.2:g.184892A>C
  • NM_032043.3:c.3378A>CMANE SELECT
  • NP_114432.2:p.Glu1126Asp
  • NP_114432.2:p.Glu1126Asp
  • LRG_300t1:c.3378A>C
  • LRG_300:g.184892A>C
  • LRG_300p1:p.Glu1126Asp
  • NC_000017.10:g.59761029T>G
  • NM_032043.2:c.3378A>C
  • NM_032043.3:c.3378A>C
  • p.E1126D
Protein change:
E1126D
Links:
dbSNP: rs145855459
NCBI 1000 Genomes Browser:
rs145855459
Molecular consequence:
  • NM_032043.3:c.3378A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004736735PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(Nov 10, 2021) 		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, SCV004736735.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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

Last Updated: Nov 10, 2024