NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 2021
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:: RCV004027484.1

Allele description [Variation Report for NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)]

NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)

Gene:

ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

Preferred name:

NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)

HGVS:

NC_000009.12:g.108898711A>C
NG_008788.1:g.40618T>G
NM_001318360.2:c.1901T>G
NM_001330749.2:c.1196T>G
NM_003640.5:c.2243T>GMANE SELECT
NP_001305289.1:p.Leu634Arg
NP_001317678.1:p.Leu399Arg
NP_003631.2:p.Leu748Arg
LRG_251t1:c.2243T>G
LRG_251:g.40618T>G
NC_000009.11:g.111660991A>C
NM_003640.3:c.2243T>G

Protein change:

L399R

Links:

dbSNP: rs1034776233

NCBI 1000 Genomes Browser:

rs1034776233

Molecular consequence:

NM_001318360.2:c.1901T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330749.2:c.1196T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003640.5:c.2243T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002755506	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 29, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002755506

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 29, 2021)

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, SCV002755506.2

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

Description

The p.L748R variant (also known as c.2243T>G), located in coding exon 20 of the IKBKAP gene, results from a T to G substitution at nucleotide position 2243. The leucine at codon 748 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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 16, 2025

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