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NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 28, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001584150.6

Allele description [Variation Report for NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)]

NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)

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.1018C>T (p.Leu340Phe)
HGVS:
  • NC_000017.11:g.61801375G>A
  • NG_007409.2:g.67185C>T
  • NM_032043.3:c.1018C>TMANE SELECT
  • NP_114432.2:p.Leu340Phe
  • NP_114432.2:p.Leu340Phe
  • LRG_300t1:c.1018C>T
  • LRG_300:g.67185C>T
  • LRG_300p1:p.Leu340Phe
  • NC_000017.10:g.59878736G>A
  • NM_032043.2:c.1018C>T
Protein change:
L340F
Links:
dbSNP: rs755796609
NCBI 1000 Genomes Browser:
rs755796609
Molecular consequence:
  • NM_032043.3:c.1018C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001813362GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 28, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001813362.3

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

Description

Observed in individuals with breast, pancreatic, prostate, and other cancers, as well as in unaffected controls (PMID: 26790966, 28873162, 30833958, 31214711, 32255556, 32068069); Published functional in vitro studies demonstrate ability to rescue BRIP1 knockout cellular phenotypes similar to wild type with a moderate defect (PMID: 32542039); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26790966, 27150160, 24336570, 26709662, 28873162, 30833958, 31214711, 27107905, Padeganeh2023[Poster], 35186721, 32255556, 32068069, 32542039, 35171259, 36243179, 37885353)

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

Last Updated: Nov 18, 2024