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NM_144573.4(NEXN):c.1606_1607del (p.Lys536fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 30, 2020
Accession:
VCV000632116.2
Variation ID:
632116
Description:
2bp deletion
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NM_144573.4(NEXN):c.1606_1607del (p.Lys536fs)

Allele ID
620015
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942153-77942154 (GRCh38) GRCh38 UCSC
1: 78407838-78407839 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_442:g.58641_58642del
LRG_995:g.41940_41941del
NC_000001.10:g.78407840_78407841del
... more HGVS
Protein change
K472fs, K536fs
Other names
-
Canonical SPDI
NC_000001.11:77942152:AAAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1394704286
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
NEXN-Related Disorders
Uncertain significance 1 criteria provided, single submitter Nov 30, 2018 RCV000778993.1
Uncertain significance 1 criteria provided, single submitter Jul 30, 2020 RCV001307654.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEXN - - GRCh38
GRCh37
359 381

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
NEXN-Related Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915434.1
Submitted: (Feb 01, 2019)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Jul 30, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV001497075.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the NEXN gene (p.Lys536Valfs*7). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1394704286...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021