NM_144573.3(NEXN):c.874G>A (p.Asp292Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000183684.3

Allele description [Variation Report for NM_144573.3(NEXN):c.874G>A (p.Asp292Asn)]

NM_144573.3(NEXN):c.874G>A (p.Asp292Asn)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.3(NEXN):c.874G>A (p.Asp292Asn)
Other names:
p.D292N:GAT>AAT
HGVS:
  • NC_000001.11:g.77929325G>A
  • NG_016625.1:g.45811G>A
  • NM_001172309.1:c.682G>A
  • NM_144573.3:c.874G>A
  • NP_001165780.1:p.Asp228Asn
  • NP_653174.3:p.Asp292Asn
  • LRG_442t1:c.874G>A
  • LRG_442:g.45811G>A
  • LRG_442p1:p.Asp292Asn
  • NC_000001.10:g.78395010G>A
Protein change:
D228N
Links:
dbSNP: rs373377525
NCBI 1000 Genomes Browser:
rs373377525
Molecular consequence:
  • NM_001172309.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.3:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000236153GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 10, 2021)
germlineclinical testing

Citation Link,

SCV001925599Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

SCV001926718Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236153.11

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

Description

Reported in a patient referred for dilated cardiomyopathy (van Lint et al., 2019); however, specific clinical information was not provided; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 201942; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30847666)

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001925599.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926718.1

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

Last Updated: Oct 8, 2021

Support Center