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NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 22, 2020
Accession:
VCV000870088.2
Variation ID:
870088
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg)

Allele ID
858247
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942078 (GRCh38) GRCh38 UCSC
1: 78407763 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78407763A>G
NC_000001.11:g.77942078A>G
NG_016625.1:g.58564A>G
... more HGVS
Protein change
K510R, K446R
Other names
-
Canonical SPDI
NC_000001.11:77942077:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 16, 2018 RCV001089628.1
Uncertain significance 1 criteria provided, single submitter Mar 22, 2020 RCV001301329.1
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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
357 379

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 16, 2018)
criteria provided, single submitter
Method: research
Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Allele origin: germline
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute
Accession: SCV001245105.1
Submitted: (Nov 25, 2019)
Evidence details
Comment:
NEXN Lys510Arg has not been previously reported but is present in population databases such as the Genome Aggregation Database (AF=0.000014; http://gnomad.broadinstitute.org/). We identified this variant … (more)
Uncertain significance
(Mar 22, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV001490495.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 510 of the NEXN protein (p.Lys510Arg). The lysine residue is highly conserved and there is a … (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.

Record last updated Oct 08, 2021