NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Jun 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621584.1

Allele description [Variation Report for NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)]

NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
HGVS:
  • NC_000001.11:g.77935972AGA[2]
  • NC_000001.11:g.77935976_77935978del
  • NG_016625.1:g.52458AGA[2]
  • NM_001172309.2:c.1209AGA[2]
  • NM_144573.4:c.1401AGA[2]MANE SELECT
  • NP_001165780.1:p.Glu406del
  • NP_653174.3:p.Glu470del
  • LRG_442t1:c.1407_1409del
  • LRG_442:g.52458AGA[2]
  • NC_000001.10:g.78401657AGA[2]
  • NC_000001.10:g.78401657_78401659del
  • NM_144573.3:c.1405_1407delGAA
  • NM_144573.3:c.1407_1409del
  • NM_144573.3:c.1407_1409delAGA
  • c.1407_1409delAGA
Protein change:
E406del
Links:
dbSNP: rs397517846
NCBI 1000 Genomes Browser:
rs397517846
Molecular consequence:
  • NM_001172309.2:c.1209AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144573.4:c.1401AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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
SCV000739980Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jun 8, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]
PMID:
27532257
PMCID:
PMC5116235

Details of each submission

From Ambry Genetics, SCV000739980.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The c.1407_1409delAGA variant (also known as p.E470del) is located in coding exon 10 of the NEXN gene. This variant results from an in-frame AGA deletion at nucleotide positions 1407 to 1409. This results in the in-frame deletion of a glutamic acid at codon 470. This amino acid position is highly conserved in available vertebrate species. This variant was reported in 1 individual with dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes and in one individual from a DCM genetic testing cohort; however, clinical details were limited (Pugh TJ et al. Genet. Med. 2014;16:601-8; Walsh R et al. Genet. Med., 2017 02;19:192-203). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

Support Center