NM_003640.5(ELP1):c.3163A>C (p.Lys1055Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 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:: RCV004066514.1

Allele description [Variation Report for NM_003640.5(ELP1):c.3163A>C (p.Lys1055Gln)]

NM_003640.5(ELP1):c.3163A>C (p.Lys1055Gln)

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.3163A>C (p.Lys1055Gln)

HGVS:

NC_000009.12:g.108889391T>G
NG_008788.1:g.49938A>C
NM_001318360.2:c.2821A>C
NM_001330749.2:c.2116A>C
NM_003640.5:c.3163A>CMANE SELECT
NP_001305289.1:p.Lys941Gln
NP_001317678.1:p.Lys706Gln
NP_003631.2:p.Lys1055Gln
NP_003631.2:p.Lys1055Gln
LRG_251t1:c.3163A>C
LRG_251:g.49938A>C
LRG_251p1:p.Lys1055Gln
NC_000009.11:g.111651671T>G
NM_003640.3:c.3163A>C

Protein change:

K1055Q

Molecular consequence:

NM_001318360.2:c.2821A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330749.2:c.2116A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003640.5:c.3163A>C - 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
SCV002755733	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002755733

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 23, 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, SCV002755733.2

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

Description

The p.K1055Q variant (also known as c.3163A>C), located in coding exon 28 of the IKBKAP gene, results from an A to C substitution at nucleotide position 3163. The lysine at codon 1055 is replaced by glutamine, an amino acid with 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 16, 2024

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