NM_144573.3(NEXN):c.1606_1607del (p.Lys536fs) AND NEXN-Related Disorders

Clinical significance:Uncertain significance (Last evaluated: Nov 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778993.1

Allele description [Variation Report for NM_144573.3(NEXN):c.1606_1607del (p.Lys536fs)]

NM_144573.3(NEXN):c.1606_1607del (p.Lys536fs)

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.1606_1607del (p.Lys536fs)
HGVS:
  • NC_000001.11:g.77942155_77942156del
  • NG_016625.1:g.58641_58642del
  • NG_033243.2:g.41940_41941del
  • NM_001172309.1:c.1414_1415del
  • NM_144573.3:c.1606_1607del
  • NP_001165780.1:p.Lys472fs
  • NP_653174.3:p.Lys536fs
  • LRG_442t1:c.1606_1607del
  • LRG_442:g.58641_58642del
  • LRG_442p1:p.Lys536fs
  • LRG_995:g.41940_41941del
  • NC_000001.10:g.78407838_78407839del
  • NC_000001.10:g.78407840_78407841del
  • NM_144573.3:c.1606_1607delAA
Protein change:
K472fs
Links:
dbSNP: rs1394704286
NCBI 1000 Genomes Browser:
rs1394704286
Molecular consequence:
  • NM_001172309.1:c.1414_1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144573.3:c.1606_1607del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
NEXN-Related Disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915434Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Nov 30, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915434.1

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

Description

This variant results in a frameshift and is predicted to result in premature termination of the protein. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.

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

Last Updated: Oct 8, 2021

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