NM_006164.5(NFE2L2):c.164A>C (p.Glu55Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 6, 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:: RCV004325422.1

Allele description [Variation Report for NM_006164.5(NFE2L2):c.164A>C (p.Glu55Ala)]

NM_006164.5(NFE2L2):c.164A>C (p.Glu55Ala)

Gene:

NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_006164.5(NFE2L2):c.164A>C (p.Glu55Ala)

HGVS:

NC_000002.12:g.177234153T>G
NM_001145412.3:c.116A>C
NM_001145413.3:c.116A>C
NM_001313900.1:c.116A>C
NM_001313901.1:c.116A>C
NM_001313902.2:c.164A>C
NM_001313903.2:c.93+71A>C
NM_001313904.1:c.-66A>C
NM_006164.5:c.164A>CMANE SELECT
NP_001138884.1:p.Glu39Ala
NP_001138885.1:p.Glu39Ala
NP_001300829.1:p.Glu39Ala
NP_001300830.1:p.Glu39Ala
NP_001300831.1:p.Glu55Ala
NP_006155.2:p.Glu55Ala
NC_000002.11:g.178098881T>G
NM_006164.3:c.164A>C

Protein change:

E39A

Molecular consequence:

NM_001313904.1:c.-66A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001313903.2:c.93+71A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001145412.3:c.116A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001145413.3:c.116A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001313900.1:c.116A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001313901.1:c.116A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001313902.2:c.164A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006164.5:c.164A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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zinc finger protein 185 isoform X12 [Homo sapiens]
zinc finger protein 185 isoform X12 [Homo sapiens]
gi|1034675239|ref|XP_016885319.1|

Protein
Rpl15-ps1 ribosomal protein L15, pseudogene 1 [Rattus norvegicus]
Rpl15-ps1 ribosomal protein L15, pseudogene 1 [Rattus norvegicus]
Gene ID:100909895

Gene
Peripheral Nervous System Neoplasms
Peripheral Nervous System Neoplasms
Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVi...<br/>Year introduced: 2000(1966)

MeSH
Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and moto...<br/>Year introduced: 1994

MeSH
Operator Regions, Genetic
Operator Regions, Genetic
The regulatory elements of an OPERON to which activators or repressors bind thereby effecting the transcription of GENES in the operon.<br/>Year introduced: 2009 (1986)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003993615	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003993615

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 6, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003993615.2

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

Description

The c.164A>C (p.E55A) alteration is located in exon 2 (coding exon 2) of the NFE2L2 gene. This alteration results from a A to C substitution at nucleotide position 164, causing the glutamic acid (E) at amino acid position 55 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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 3, 2024

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