NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 12, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000725298.1

Allele description [Variation Report for NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs)]

NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs)
HGVS:
  • NC_000001.11:g.77942158_77942159insA
  • NG_016625.1:g.58644_58645insA
  • NG_033243.2:g.41935_41936insT
  • NM_001172309.2:c.1417_1418insA
  • NM_144573.3:c.1609_1610insA
  • NM_144573.4:c.1609_1610insAMANE SELECT
  • NP_001165780.1:p.Leu473fs
  • NP_653174.3:p.Leu537fs
  • NP_653174.3:p.Leu537fs
  • LRG_442t1:c.1609_1610insA
  • LRG_442:g.58644_58645insA
  • LRG_442p1:p.Leu537fs
  • LRG_995:g.41935_41936insT
  • NC_000001.10:g.78407843_78407844insA
  • p.Leu537TyrfsX7
Protein change:
L473fs
Links:
dbSNP: rs779350415
NCBI 1000 Genomes Browser:
rs779350415
Molecular consequence:
  • NM_001172309.2:c.1417_1418insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144573.3:c.1609_1610insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144573.4:c.1609_1610insA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000335814EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 12, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000335814.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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