NM_001417.7(EIF4B):c.1253C>G (p.Ser418Trp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 2024
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:: RCV004377817.1

Allele description [Variation Report for NM_001417.7(EIF4B):c.1253C>G (p.Ser418Trp)]

NM_001417.7(EIF4B):c.1253C>G (p.Ser418Trp)

Gene:

EIF4B:eukaryotic translation initiation factor 4B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_001417.7(EIF4B):c.1253C>G (p.Ser418Trp)

HGVS:

NC_000012.12:g.53034656C>G
NM_001300821.3:c.1253C>G
NM_001330654.2:c.1136C>G
NM_001417.7:c.1253C>GMANE SELECT
NP_001287750.1:p.Ser418Trp
NP_001317583.1:p.Ser379Trp
NP_001408.2:p.Ser418Trp
NC_000012.11:g.53428440C>G
NM_001417.4:c.1253C>G

Protein change:

S379W

Molecular consequence:

NM_001300821.3:c.1253C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330654.2:c.1136C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001417.7:c.1253C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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L-Serine Dehydratase
L-Serine Dehydratase
A PYRIDOXAL-phosphate containing enzyme that catalyzes the dehydration and deamination of L-serine to form pyruvate. This enzyme was formerly listed as EC 4.2.1.13....<br/>Year introduced: 1998(1967)

MeSH
Methionine Adenosyltransferase
Methionine Adenosyltransferase
An enzyme that catalyzes the synthesis of S-adenosylmethionine from methionine and ATP. EC 2.5.1.6.<br/>Year introduced: 1991(1975)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004861648	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 31, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004861648

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 31, 2024)

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, SCV004861648.1

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

Description

The c.1253C>G (p.S418W) alteration is located in exon 10 (coding exon 10) of the EIF4B gene. This alteration results from a C to G substitution at nucleotide position 1253, causing the serine (S) at amino acid position 418 to be replaced by a tryptophan (W). 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: May 7, 2024

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