NM_144573.4(NEXN):c.1065T>C (p.Asp355=) AND not specified

Clinical significance:Likely benign (Last evaluated: May 1, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000151560.1

Allele description [Variation Report for NM_144573.4(NEXN):c.1065T>C (p.Asp355=)]

NM_144573.4(NEXN):c.1065T>C (p.Asp355=)

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.1065T>C (p.Asp355=)
HGVS:
  • NC_000001.11:g.77933293T>C
  • NG_016625.1:g.49779T>C
  • NM_001172309.1:c.873T>C
  • NM_144573.3:c.1065T>C
  • NM_144573.4:c.1065T>CMANE SELECT
  • NP_001165780.1:p.Asp291=
  • NP_653174.3:p.Asp355=
  • NP_653174.3:p.Asp355=
  • LRG_442t1:c.1065T>C
  • LRG_442:g.49779T>C
  • LRG_442p1:p.Asp355=
  • NC_000001.10:g.78398978T>C
  • p.Asp355Asp
Links:
dbSNP: rs369897647
NCBI 1000 Genomes Browser:
rs369897647
Molecular consequence:
  • NM_001172309.1:c.873T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144573.3:c.1065T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144573.4:c.1065T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

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
SCV000199703Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(May 1, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000199703.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Asp355Asp in exon 10 of NEXN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been 1/8106 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). A sp355Asp in exon 10 of NEXN (allele frequency = 1/8106) **

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Jul 7, 2021

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