NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001548099.2

Allele description [Variation Report for NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)]

NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)

Gene:
SEMA3E:semaphorin 3E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.11
Genomic location:
Preferred name:
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)
HGVS:
  • NC_000007.14:g.83367781C>A
  • NG_021242.2:g.286383G>T
  • NM_001178129.2:c.1953G>T
  • NM_012431.3:c.2133G>TMANE SELECT
  • NP_001171600.1:p.Lys651Asn
  • NP_036563.1:p.Lys711Asn
  • LRG_1287t1:c.2133G>T
  • LRG_1287:g.286383G>T
  • LRG_1287p1:p.Lys711Asn
  • NC_000007.13:g.82997097C>A
  • NM_012431.2:c.2133G>T
Protein change:
K651N
Links:
dbSNP: rs768818178
NCBI 1000 Genomes Browser:
rs768818178
Molecular consequence:
  • NM_001178129.2:c.1953G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012431.3:c.2133G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001767953GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001767953.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; K711N has not been published as a pathogenic variant, nor has it been reported as a benign variant in association with a hearing loss phenotype; This variant is associated with the following publications: (PMID: 30661757)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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