NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 26, 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:: RCV004023736.1

Allele description [Variation Report for NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)]

NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)

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.2806A>G (p.Ile936Val)

HGVS:

NC_000009.12:g.108893997T>C
NG_008788.1:g.45332A>G
NM_001318360.2:c.2464A>G
NM_001330749.2:c.1759A>G
NM_003640.5:c.2806A>GMANE SELECT
NP_001305289.1:p.Ile822Val
NP_001317678.1:p.Ile587Val
NP_003631.2:p.Ile936Val
LRG_251t1:c.2806A>G
LRG_251:g.45332A>G
NC_000009.11:g.111656277T>C
NM_003640.3:c.2806A>G

Protein change:

I587V

Links:

dbSNP: rs1239561807

NCBI 1000 Genomes Browser:

rs1239561807

Molecular consequence:

NM_001318360.2:c.2464A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330749.2:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003640.5:c.2806A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005021175	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005021175

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 26, 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, SCV005021175.1

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

Description

The p.I936V variant (also known as c.2806A>G), located in coding exon 25 of the IKBKAP gene, results from an A to G substitution at nucleotide position 2806. The isoleucine at codon 936 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Sep 29, 2024

ClinVar

Relating variation to medicine