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NM_014413.4(EIF2AK1):c.1601C>T (p.Ala534Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 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:
RCV004377690.1

Allele description [Variation Report for NM_014413.4(EIF2AK1):c.1601C>T (p.Ala534Val)]

NM_014413.4(EIF2AK1):c.1601C>T (p.Ala534Val)

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.1601C>T (p.Ala534Val)
HGVS:
  • NC_000007.14:g.6026891G>A
  • NG_110408.1:g.688G>A
  • NM_001134335.2:c.1598C>T
  • NM_014413.4:c.1601C>TMANE SELECT
  • NP_001127807.1:p.Ala533Val
  • NP_055228.2:p.Ala534Val
  • NC_000007.13:g.6066522G>A
  • NM_014413.3:c.1601C>T
Protein change:
A533V
Molecular consequence:
  • NM_001134335.2:c.1598C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014413.4:c.1601C>T - 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
SCV004863415Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 17, 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, SCV004863415.1

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

Description

The c.1601C>T (p.A534V) alteration is located in exon 14 (coding exon 14) of the EIF2AK1 gene. This alteration results from a C to T substitution at nucleotide position 1601, causing the alanine (A) at amino acid position 534 to be replaced by a valine (V). 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: May 7, 2024