U.S. flag

An official website of the United States government

NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) AND Familial cancer of breast

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 2, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000989979.4

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:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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
SCV001140741Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link,

SCV004019475Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Uncertain significance
(Mar 2, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140741.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Myriad Genetics, Inc., SCV004019475.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Nov 10, 2024