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NM_024800.5(NEK11):c.1579T>A (p.Leu527Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004318148.1

Allele description [Variation Report for NM_024800.5(NEK11):c.1579T>A (p.Leu527Met)]

NM_024800.5(NEK11):c.1579T>A (p.Leu527Met)

Gene:
NEK11:NIMA related kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_024800.5(NEK11):c.1579T>A (p.Leu527Met)
HGVS:
  • NC_000003.12:g.131243454T>A
  • NG_029225.1:g.221605T>A
  • NM_001146003.2:c.1579T>A
  • NM_001321220.2:c.1579T>A
  • NM_001321221.2:c.1705T>A
  • NM_001321222.2:c.1264T>A
  • NM_001321224.2:c.1027T>A
  • NM_001353022.2:c.1705T>A
  • NM_001353023.2:c.1579T>A
  • NM_001353024.2:c.1576T>A
  • NM_001353025.2:c.1576T>A
  • NM_001353026.2:c.1705T>A
  • NM_001353027.2:c.1471T>A
  • NM_001353028.2:c.1579T>A
  • NM_001353029.2:c.1579T>A
  • NM_001353030.2:c.1471T>A
  • NM_001353031.2:c.1471T>A
  • NM_001353032.2:c.1264T>A
  • NM_001353033.2:c.1261T>A
  • NM_001353034.2:c.1261T>A
  • NM_001353036.2:c.1387T>A
  • NM_001353037.2:c.1156T>A
  • NM_001353038.2:c.1135T>A
  • NM_001353039.2:c.1135T>A
  • NM_001353040.2:c.1135T>A
  • NM_001353041.2:c.1135T>A
  • NM_001353042.2:c.1135T>A
  • NM_001353043.2:c.1135T>A
  • NM_001353044.2:c.1264T>A
  • NM_001353045.2:c.1264T>A
  • NM_001353046.2:c.1027T>A
  • NM_001353048.2:c.1135T>A
  • NM_024800.5:c.1579T>AMANE SELECT
  • NP_001139475.1:p.Leu527Met
  • NP_001308149.1:p.Leu527Met
  • NP_001308150.1:p.Leu569Met
  • NP_001308151.1:p.Leu422Met
  • NP_001308153.1:p.Leu343Met
  • NP_001339951.1:p.Leu569Met
  • NP_001339952.1:p.Leu527Met
  • NP_001339953.1:p.Leu526Met
  • NP_001339954.1:p.Leu526Met
  • NP_001339955.1:p.Leu569Met
  • NP_001339956.1:p.Leu491Met
  • NP_001339957.1:p.Leu527Met
  • NP_001339958.1:p.Leu527Met
  • NP_001339959.1:p.Leu491Met
  • NP_001339960.1:p.Leu491Met
  • NP_001339961.1:p.Leu422Met
  • NP_001339962.1:p.Leu421Met
  • NP_001339963.1:p.Leu421Met
  • NP_001339965.1:p.Leu463Met
  • NP_001339966.1:p.Leu386Met
  • NP_001339967.1:p.Leu379Met
  • NP_001339968.1:p.Leu379Met
  • NP_001339969.1:p.Leu379Met
  • NP_001339970.1:p.Leu379Met
  • NP_001339971.1:p.Leu379Met
  • NP_001339972.1:p.Leu379Met
  • NP_001339973.1:p.Leu422Met
  • NP_001339974.1:p.Leu422Met
  • NP_001339975.1:p.Leu343Met
  • NP_001339977.1:p.Leu379Met
  • NP_079076.3:p.Leu527Met
  • NC_000003.11:g.130962298T>A
  • NM_024800.4:c.1579T>A
Protein change:
L343M
Molecular consequence:
  • NM_001146003.2:c.1579T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321220.2:c.1579T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321221.2:c.1705T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321222.2:c.1264T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321224.2:c.1027T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353022.2:c.1705T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353023.2:c.1579T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353024.2:c.1576T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353025.2:c.1576T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353026.2:c.1705T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353027.2:c.1471T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353028.2:c.1579T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353029.2:c.1579T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353030.2:c.1471T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353031.2:c.1471T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353032.2:c.1264T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353033.2:c.1261T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353034.2:c.1261T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353036.2:c.1387T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353037.2:c.1156T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353038.2:c.1135T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353039.2:c.1135T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353040.2:c.1135T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353041.2:c.1135T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353042.2:c.1135T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353043.2:c.1135T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353044.2:c.1264T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353045.2:c.1264T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353046.2:c.1027T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353048.2:c.1135T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024800.5:c.1579T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003983533Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 24, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003983533.2

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

Description

The c.1579T>A (p.L527M) alteration is located in exon 16 (coding exon 14) of the NEK11 gene. This alteration results from a T to A substitution at nucleotide position 1579, causing the leucine (L) at amino acid position 527 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024