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NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 2022
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:
RCV003166785.2

Allele description [Variation Report for NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del)]

NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del)

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.167GAA[1] (p.Arg57del)
HGVS:
  • NC_000001.11:g.77917705GAA[1]
  • NG_016625.1:g.34191GAA[1]
  • NM_001172309.2:c.28-252_28-250del
  • NM_144573.3:c.170_172delGAA
  • NM_144573.4:c.167GAA[1]MANE SELECT
  • NP_653174.3:p.Arg57del
  • LRG_442t1:c.170_172del
  • LRG_442:g.34191GAA[1]
  • NC_000001.10:g.78383388_78383390del
  • NC_000001.10:g.78383390GAA[1]
Protein change:
R57del
Links:
dbSNP: rs1435048653
NCBI 1000 Genomes Browser:
rs1435048653
Molecular consequence:
  • NM_144573.4:c.167GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001172309.2:c.28-252_28-250del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003912600Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 17, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, et al.

Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27.

PubMed [citation]
PMID:
31983221
PMCID:
PMC7004454

Details of each submission

From Ambry Genetics, SCV003912600.2

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

Description

The c.170_172delGAA variant (also known as p.R57del) is located in coding exon 2 of the NEXN gene. This variant results from an in-frame GAA deletion at nucleotide positions 170 to 172. This results in the in-frame deletion of an arginine at codon 57. This variant has been detected in a dilated cardiomyopathy cohort (Mazzarotto F et al. Circulation, 2020 02;141:387-398). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024