NM_144573.4(NEXN):c.220A>C (p.Ile74Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jul 24, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000151558.1

Allele description [Variation Report for NM_144573.4(NEXN):c.220A>C (p.Ile74Leu)]

NM_144573.4(NEXN):c.220A>C (p.Ile74Leu)

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.220A>C (p.Ile74Leu)
HGVS:
  • NC_000001.11:g.77917960A>C
  • NG_016625.1:g.34446A>C
  • NM_001172309.2:c.28A>C
  • NM_144573.3:c.220A>C
  • NM_144573.4:c.220A>CMANE SELECT
  • NP_001165780.1:p.Ile10Leu
  • NP_653174.3:p.Ile74Leu
  • NP_653174.3:p.Ile74Leu
  • LRG_442t1:c.220A>C
  • LRG_442:g.34446A>C
  • LRG_442p1:p.Ile74Leu
  • NC_000001.10:g.78383645A>C
  • NC_000001.10:g.78383645A>C
Protein change:
I10L
Links:
dbSNP: rs727503342
NCBI 1000 Genomes Browser:
rs727503342
Molecular consequence:
  • NM_001172309.2:c.28A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.3:c.220A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.4:c.220A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000199696Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jul 24, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000199696.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Ile74Leu variant in NEXN has not been previously reported in individuals wit h cardiomyopathy and was absent from large population studies. Isoleucine (Ile) at position 74 is not conserved in evolution and 1 mammal as well as 1 fish spec ies carry a leucine (Leu) at this position, raising the possibility that this ch ange may be tolerated. However, this information is not predictive enough to rul e out pathogenicity. In summary, the clinical significance of the Ile74Leu varia nt is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 24, 2021

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