NM_014413.4(EIF2AK1):c.814G>A (p.Asp272Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 3, 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:: RCV003565617.2

Allele description [Variation Report for NM_014413.4(EIF2AK1):c.814G>A (p.Asp272Asn)]

NM_014413.4(EIF2AK1):c.814G>A (p.Asp272Asn)

Gene:

EIF2AK1:eukaryotic translation initiation factor 2 alpha kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_014413.4(EIF2AK1):c.814G>A (p.Asp272Asn)

HGVS:

NC_000007.14:g.6041197C>T
NM_001134335.2:c.811G>A
NM_014413.4:c.814G>AMANE SELECT
NP_001127807.1:p.Asp271Asn
NP_055228.2:p.Asp272Asn
NC_000007.13:g.6080828C>T
NM_014413.3:c.814G>A

Protein change:

D271N

Molecular consequence:

NM_001134335.2:c.811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014413.4:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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EG-mRNA-2
EG-mRNA-2

biosample
SAMN02904722 (1)
SRA
Bulbophyllum hirundinis voucher Z.J.Liu LK972 atpI (atpI) gene, partial cds; and...
Bulbophyllum hirundinis voucher Z.J.Liu LK972 atpI (atpI) gene, partial cds; and atpI-atpH intergenic spacer, partial sequence; chloroplast
gi|1218182464|gb|KY022451.1|

Nucleotide
Epigen
Epigen
An EGF family member that is synthesized as a membrane-bound protein that can be cleaved to release an active secreted form. It has a mitogenic effect on EPITHELIAL CELLS....<br/>Year introduced: 2015

MeSH
Betacellulin
Betacellulin
An EGF family member that plays an important role in regulating growth and differentiation of PANCREATIC BETA CELLS. Betacellulin has specificity for the EGF RECEPTOR and the ...<br/>Year introduced: 2015

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004320021	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 3, 2023)	germline	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

SCV004320021

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 3, 2023)

germline

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004320021.1

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 272 of the EIF2AK1 protein (p.Asp272Asn). This variant is present in population databases (rs148186626, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with EIF2AK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2411529). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine