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NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (6 submissions)
Last evaluated:
Aug 1, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000321750.40

Allele description [Variation Report for NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)]

NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)

Gene:
WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
HGVS:
  • NC_000012.12:g.896637T>C
  • NG_007984.3:g.148579T>C
  • NM_001184985.2:c.6930T>C
  • NM_014823.3:c.5406T>C
  • NM_018979.4:c.6150T>CMANE SELECT
  • NM_213655.5:c.6906T>C
  • NP_001171914.1:p.Leu2310=
  • NP_055638.2:p.Leu1802=
  • NP_061852.3:p.Leu2050=
  • NP_998820.3:p.Leu2302=
  • NP_998820.3:p.Leu2302=
  • LRG_247t1:c.6150T>C
  • LRG_247t2:c.6906T>C
  • LRG_247:g.148579T>C
  • LRG_247p1:p.Leu2050=
  • LRG_247p2:p.Leu2302=
  • NC_000012.11:g.1005803T>C
  • NM_018979.3:c.6150T>C
  • NM_213655.4:c.6906T>C
Links:
dbSNP: rs151331381
NCBI 1000 Genomes Browser:
rs151331381
Molecular consequence:
  • NM_001184985.2:c.6930T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014823.3:c.5406T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018979.4:c.6150T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_213655.5:c.6906T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
5

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
SCV000344150Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Aug 15, 2016)
germlineclinical testing

Citation Link,

SCV001472071ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)
Likely benign
(Nov 14, 2020)
germlineclinical testing

Citation Link,

SCV001747638CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Aug 1, 2023)
germlineclinical testing

Citation Link,

SCV001923650Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001928117Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001965878Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000344150.4

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472071.2

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

From CeGaT Center for Human Genetics Tuebingen, SCV001747638.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided

Description

WNK1: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923650.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001928117.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965878.1

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

Last Updated: Oct 26, 2024