NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) AND Primary dilated cardiomyopathy

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Mar 1, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000208290.2

Allele description [Variation Report for NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)]

NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)

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.1955A>G (p.Tyr652Cys)

Other names:

p.Y652C:TAT>TGT

HGVS:

NC_000001.11:g.77942756A>G
NG_016625.1:g.59242A>G
NG_033243.2:g.41338T>C
NM_001172309.2:c.1763A>G
NM_144573.4:c.1955A>GMANE SELECT
NP_001165780.1:p.Tyr588Cys
NP_653174.3:p.Tyr652Cys
NP_653174.3:p.Tyr652Cys
LRG_442t1:c.1955A>G
LRG_442:g.59242A>G
LRG_442p1:p.Tyr652Cys
LRG_995:g.41338T>C
NC_000001.10:g.78408441A>G
NM_144573.3:c.1955A>G
Q0ZGT2:p.Tyr652Cys
c.1955A>G

Protein change:

Y588C; TYR652CYS

Links:

UniProtKB: Q0ZGT2#VAR_063011; OMIM: 613121.0002; dbSNP: rs137853197

NCBI 1000 Genomes Browser:

rs137853197

Molecular consequence:

NM_001172309.2:c.1763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_144573.4:c.1955A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264127	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Likely pathogenic (Sep 29, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV005200557	Lildballe Lab, Aarhus University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 1, 2024)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741903, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264127

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Likely pathogenic
(Sep 29, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV005200557

Lildballe Lab, Aarhus University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 1, 2024)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.

Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, Nürnberg P, Schunkert H, Katus HA, Rottbauer W.

Nat Med. 2009 Nov;15(11):1281-8. doi: 10.1038/nm.2037. Epub 2009 Nov 1.

PubMed [citation]

PMID:: 19881492

Complications Following Therapeutic Bronchoscopy for Malignant Central Airway Obstruction: Results of the AQuIRE Registry.

Ost DE, Ernst A, Grosu HB, Lei X, Diaz-Mendoza J, Slade M, Gildea TR, Machuzak M, Jimenez CA, Toth J, Kovitz KL, Ray C, Greenhill S, Casal RF, Almeida FA, Wahidi M, Eapen GA, Yarmus LB, Morice RC, Benzaquen S, Tremblay A, Simoff M; et al.

Chest. 2015 Aug;148(2):450-471. doi: 10.1378/chest.14-1530.

PubMed [citation]

PMID:: 25741903
PMCID:: PMC4524328

See all PubMed Citations (3)

Details of each submission

From Blueprint Genetics, SCV000264127.2

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

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

From Lildballe Lab, Aarhus University Hospital, SCV005200557.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

Description

PP3(m), PM2(sup), PP5(noinf)

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

Last Updated: Nov 3, 2024

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