NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 13, 2021
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:: RCV001508679.17

Allele description [Variation Report for NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)]

NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)

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.1834G>A (p.Gly612Ser)

HGVS:

NC_000012.12:g.861226G>A
NG_007984.3:g.113168G>A
NM_001184985.2:c.1834G>A
NM_014823.3:c.1834G>A
NM_018979.4:c.1834G>AMANE SELECT
NM_213655.5:c.1834G>A
NP_001171914.1:p.Gly612Ser
NP_055638.2:p.Gly612Ser
NP_061852.3:p.Gly612Ser
NP_998820.3:p.Gly612Ser
NP_998820.3:p.Gly612Ser
LRG_247t1:c.1834G>A
LRG_247t2:c.1834G>A
LRG_247:g.113168G>A
LRG_247p1:p.Gly612Ser
LRG_247p2:p.Gly612Ser
NC_000012.11:g.970392G>A
NM_018979.3:c.1834G>A
NM_213655.4:c.1834G>A
p.Gly612Ser

Protein change:

G612S

Links:

dbSNP: rs146450828

NCBI 1000 Genomes Browser:

rs146450828

Molecular consequence:

NM_001184985.2:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014823.3:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018979.4:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_213655.5:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001714997	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 31, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002048820	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Aug 13, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001714997

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 31, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002048820

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Aug 13, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714997.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048820.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The WNK1 c.1834G>A; p.Gly612Ser variant (rs146450828), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 310740). This variant is found in the Latino population with an allele frequency of 0.079% (28 /35420 alleles) in the Genome Aggregation Database. The glycine at codon 612 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.086). Due to limited information, the clinical significance of the p.Gly612Ser variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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