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NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 21, 2018
Accession:
VCV000229054.3
Variation ID:
229054
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)

Allele ID
228521
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77935986 (GRCh38) GRCh38 UCSC
1: 78401671 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78401671C>G
NC_000001.11:g.77935986C>G
NM_144573.4:c.1415C>G MANE Select NP_653174.3:p.Ala472Gly missense
... more HGVS
Protein change
A472G, A408G
Other names
-
Canonical SPDI
NC_000001.11:77935985:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
dbSNP: rs539665448
ClinGen: CA918874
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 Apr 1, 2015 RCV000222980.1
Uncertain significance 1 criteria provided, single submitter Nov 21, 2018 RCV000466479.2
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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
(Nov 21, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV000549239.3
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces alanine with glycine at codon 472 of the NEXN protein (p.Ala472Gly). The alanine residue is highly conserved and there is a … (more)
Uncertain significance
(Apr 01, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272210.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Ala472Gly variant in NEXN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/11546 of Latino chromosomes by the … (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 rs539665448...

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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