NM_144573.3(NEXN):c.1820_1822del (p.Gly607del) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766520.1

Allele description [Variation Report for NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)]

NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)

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.1820_1822del (p.Gly607del)
HGVS:
  • NC_000001.10:g.78408304_78408306del
  • NC_000001.11:g.77942621_77942623del
  • NG_016625.1:g.59107_59109del
  • NG_033243.2:g.41473_41475del
  • NM_001172309.1:c.1628_1630del
  • NM_144573.3:c.1820_1822del
  • NP_001165780.1:p.Gly543del
  • NP_653174.3:p.Gly607del
  • LRG_442t1:c.1820_1822del
  • LRG_442:g.59107_59109del
  • LRG_442p1:p.Gly607del
  • LRG_995:g.41473_41475del
  • NC_000001.10:g.78408304_78408306del
  • NC_000001.10:g.78408306_78408308del
  • NC_000001.10:g.78408306_78408308delGAG
  • NM_144573.3:c.1820_1822delGAG
Protein change:
G543del
Links:
dbSNP: rs876657928
NCBI 1000 Genomes Browser:
rs876657928
Molecular consequence:
  • NM_001172309.1:c.1628_1630del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144573.3:c.1820_1822del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000616808GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000616808.2

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

Description

A variant of uncertain significance has been identified in the NEXN gene. The c.1820_1822delGAG variant has not been published as pathogenic or been reported as benign to our knowledge. The c.1820_1822delGAG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1820_1822delGAG variant results in an in-frame deletion of a Glycine residue at codon 607, denoted p.Gly607del, and does not result in a shift in the reading frame or a premature stop codon. No nearby in-frame deletions in the NEXN gene have been reported in the Human Gene Mutation Database (HGMD) in association with cardiomyopathy, and the majority of variants in the NEXN gene reported in HGMD are missense variants (Stenson et al., 2014). However, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Jul 7, 2021

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