NM_144573.4(NEXN):c.1171C>G (p.Arg391Gly) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 25, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004524743.1

Allele description [Variation Report for NM_144573.4(NEXN):c.1171C>G (p.Arg391Gly)]

NM_144573.4(NEXN):c.1171C>G (p.Arg391Gly)

Gene:

NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_144573.4(NEXN):c.1171C>G (p.Arg391Gly)

HGVS:

NC_000001.11:g.77933399C>G
NG_016625.1:g.49885C>G
NM_001172309.2:c.979C>G
NM_144573.4:c.1171C>GMANE SELECT
NP_001165780.1:p.Arg327Gly
NP_653174.3:p.Arg391Gly
NP_653174.3:p.Arg391Gly
LRG_442t1:c.1171C>G
LRG_442:g.49885C>G
LRG_442p1:p.Arg391Gly
NC_000001.10:g.78399084C>G
NM_144573.3:c.1171C>G

Protein change:

R327G

Molecular consequence:

NM_001172309.2:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_144573.4:c.1171C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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dihydrofolate reductase [Butyrivibrio sp. VCB2006]
dihydrofolate reductase [Butyrivibrio sp. VCB2006]
gi|656286964|ref|WP_029232482.1|

Protein
Apoidea sp. DAB060 28S ribosomal RNA gene, partial sequence
Apoidea sp. DAB060 28S ribosomal RNA gene, partial sequence
gi|545335102|gb|KC560572.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005030492	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 25, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005030492

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 25, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005030492.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R391G variant (also known as c.1171C>G), located in coding exon 9 of the NEXN gene, results from a C to G substitution at nucleotide position 1171. The arginine at codon 391 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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