NM_144573.3(NEXN):c.2026_*1del AND not specified

Clinical significance:Uncertain significance (Last evaluated: Sep 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000183688.2

Allele description [Variation Report for NM_144573.3(NEXN):c.2026_*1del]

NM_144573.3(NEXN):c.2026_*1del

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.3(NEXN):c.2026_*1del
HGVS:
  • NC_000001.10:g.78408509_78408512del
  • NC_000001.11:g.77942827_77942830del
  • NG_016625.1:g.59313_59316del
  • NG_033243.2:g.41267_41270del
  • NM_001172309.2:c.1834_*1del
  • NM_144573.3:c.2026_*1del
  • NM_144573.4:c.2026_*1delMANE SELECT
  • NP_001165780.1:p.Ter612HisextTer?
  • NP_653174.3:p.Ter676HisextTer?
  • NP_653174.3:p.Ter676HisextTer?
  • LRG_442t1:c.2026_*1del
  • LRG_442:g.59313_59316del
  • LRG_442p1:p.Ter676HisextTer?
  • LRG_995:g.41267_41270del
  • NC_000001.10:g.78408509_78408512del
  • NC_000001.10:g.78408512_78408515del
  • NC_000001.10:g.78408512_78408515delTAAT
  • NM_001172309.1:c.1834_1837delTAAT
  • NM_144573.3:c.2026_*1delTAAT
  • NM_144573.3:c.2026_2029delTAAT
  • p.X676HfsX9
  • p.X676HisextX9
Links:
dbSNP: rs794729094
NCBI 1000 Genomes Browser:
rs794729094
Molecular consequence:
  • NM_001172309.2:c.1834_*1del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144573.3:c.2026_*1del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144573.4:c.2026_*1del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001172309.2:c.1834_*1del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_144573.3:c.2026_*1del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_144573.4:c.2026_*1del - stop lost - [Sequence Ontology: SO:0001578]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000713662Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Sep 11, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.

Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, N├╝rnberg P, Schunkert H, Katus HA, Rottbauer W.

Nat Med. 2009 Nov;15(11):1281-8. doi: 10.1038/nm.2037. Epub 2009 Nov 1.

PubMed [citation]
PMID:
19881492

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y.

Am J Hum Genet. 2010 Nov 12;87(5):687-93. doi: 10.1016/j.ajhg.2010.10.002. Epub 2010 Oct 21.

PubMed [citation]
PMID:
20970104
PMCID:
PMC2978958
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000713662.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The p.X676HisextX9 variant in NEXN has not been previously reported in individua ls with cardiomyopathy but has been identified in 13/34248 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs794729094). This variant deletes the stop codon, replaces it with a Histi dine and extends the protein by 8 amino acids. The impact of this change on prot ein function is unknown. NEXN variants have been described in individuals with D CM and HCM but they are rare and overall poorly studied. In summary, the clinica l significance of the p.X676HisextX9 variant is uncertain.

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

Last Updated: Oct 24, 2021

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