NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) AND Wolcott-Rallison dysplasia

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 11, 2022
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:: RCV000303905.7

Allele description [Variation Report for NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg)]

NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg)

Genes:

EIF2AK3:eukaryotic translation initiation factor 2 alpha kinase 3 [Gene - OMIM - HGNC]
LOC101928371:uncharacterized LOC101928371 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

Preferred name:

NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg)

HGVS:

NC_000002.12:g.88575419G>T
NG_016424.1:g.57158C>A
NM_001313915.2:c.1611C>A
NM_004836.7:c.2064C>AMANE SELECT
NP_001300844.1:p.Ser537Arg
NP_004827.4:p.Ser688Arg
LRG_1024t1:c.2064C>A
LRG_1024:g.57158C>A
LRG_1024p1:p.Ser688Arg
NC_000002.11:g.88874937G>T
NM_004836.5:c.2064C>A
NR_110236.1:n.1556G>T

Protein change:

S537R

Links:

dbSNP: rs771612567

NCBI 1000 Genomes Browser:

rs771612567

Molecular consequence:

NM_001313915.2:c.1611C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004836.7:c.2064C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_110236.1:n.1556G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Wolcott-Rallison dysplasia
Synonyms:: Wolcott-Rallison syndrome
Identifiers:: MONDO: MONDO:0009192; MedGen: C0432217; Orphanet: 1667; OMIM: 226980

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Mus musculus kallikrein 1-related pepidase b4, mRNA (cDNA clone MGC:25388 IMAGE:...
Mus musculus kallikrein 1-related pepidase b4, mRNA (cDNA clone MGC:25388 IMAGE:4911885), complete cds
gi|21961232|gb|BC034518.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000432438	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV002779556	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 11, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000432438

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV002779556

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 11, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	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 Illumina Laboratory Services, Illumina, SCV000432438.2

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

#	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

From Fulgent Genetics, Fulgent Genetics, SCV002779556.1

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

Last Updated: Sep 29, 2024

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