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NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Aug 21, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001576624.21

Allele description [Variation Report for NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)]

NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)

Gene:
NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q33
Genomic location:
Preferred name:
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)
HGVS:
  • NC_000004.12:g.169438116G>C
  • NG_027982.1:g.179512C>G
  • NM_001199397.3:c.2731C>GMANE SELECT
  • NM_001199398.3:c.2599C>G
  • NM_001199399.3:c.2440C>G
  • NM_001199400.3:c.2515C>G
  • NM_001374418.1:c.2731C>G
  • NM_001374419.1:c.2647C>G
  • NM_001374420.1:c.2596C>G
  • NM_001374421.1:c.2282-4451C>G
  • NM_012224.4:c.2647C>G
  • NP_001186326.1:p.Gln911Glu
  • NP_001186327.1:p.Gln867Glu
  • NP_001186328.1:p.Gln814Glu
  • NP_001186329.1:p.Gln839Glu
  • NP_001361347.1:p.Gln911Glu
  • NP_001361348.1:p.Gln883Glu
  • NP_001361349.1:p.Gln866Glu
  • NP_036356.1:p.Gln883Glu
  • NC_000004.11:g.170359267G>C
  • NM_012224.2:c.2647C>G
  • NR_164630.1:n.3193C>G
Protein change:
Q814E
Links:
dbSNP: rs6828134
NCBI 1000 Genomes Browser:
rs6828134
Molecular consequence:
  • NM_001374421.1:c.2282-4451C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199397.3:c.2731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199398.3:c.2599C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199399.3:c.2440C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199400.3:c.2515C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374418.1:c.2731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374419.1:c.2647C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374420.1:c.2596C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012224.4:c.2647C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164630.1:n.3193C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001474420ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Aug 21, 2023)
germlineclinical testing

Citation Link,

SCV001803851GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Apr 27, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474420.4

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

From GeneDx, SCV001803851.4

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: Jul 23, 2024