NM_144573.4(NEXN):c.184_185dup (p.Arg63fs) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 12, 2024
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:: RCV004524752.1

Allele description [Variation Report for NM_144573.4(NEXN):c.184_185dup (p.Arg63fs)]

NM_144573.4(NEXN):c.184_185dup (p.Arg63fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_144573.4(NEXN):c.184_185dup (p.Arg63fs)

HGVS:

NC_000001.11:g.77917718AT[4]
NG_016625.1:g.34204AT[4]
NM_001172309.2:c.28-242AT[4]
NM_144573.4:c.184_185dupMANE SELECT
NP_653174.3:p.Arg63Leufs
NP_653174.3:p.Arg63fs
LRG_442t1:c.180_181AT[4]
LRG_442:g.34204AT[4]
LRG_442p1:p.Arg63Leufs
NC_000001.10:g.78383403AT[4]
NM_144573.3:c.180_181AT[4]
NM_144573.3:c.184_185dupAT

Protein change:

R63fs

Molecular consequence:

NM_144573.4:c.184_185dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001172309.2:c.28-242AT[4] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005030494	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005030494

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 12, 2024)

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, SCV005030494.1

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

Description

The c.184_185dupAT variant, located in coding exon 2 of the NEXN gene, results from a duplication of AT at nucleotide position 184, causing a translational frameshift with a predicted alternate stop codon (p.R63Lfs*29). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, this region of the NEXN gene is excluded from other biologically relevant NEXN transcripts. Based on the available evidence, 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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