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NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 24, 2020
Accession:
VCV000179277.4
Variation ID:
179277
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)

Allele ID
172602
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942077 (GRCh38) GRCh38 UCSC
1: 78407762 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78407762A>G
NC_000001.11:g.77942077A>G
NM_144573.4:c.1528A>G MANE Select NP_653174.3:p.Lys510Glu missense
... more HGVS
Protein change
K510E, K446E
Other names
-
Canonical SPDI
NC_000001.11:77942076:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA184102
dbSNP: rs727504758
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 Sep 19, 2013 RCV000156066.1
Uncertain significance 1 criteria provided, single submitter Sep 24, 2020 RCV001051771.2
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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
(Sep 19, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205779.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Lys510Glu variant in NEXN has not been reported in individuals with cardiomy opathy and data from large population studies is insufficient to assess the … (more)
Uncertain significance
(Sep 24, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV001215947.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with glutamic acid at codon 510 of the NEXN protein (p.Lys510Glu). The lysine residue is highly conserved and there is … (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 rs727504758...

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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 Jul 07, 2021