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NM_003640.5(ELP1):c.1141G>A (p.Val381Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2020
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:
RCV004035477.1

Allele description [Variation Report for NM_003640.5(ELP1):c.1141G>A (p.Val381Met)]

NM_003640.5(ELP1):c.1141G>A (p.Val381Met)

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.1141G>A (p.Val381Met)
HGVS:
  • NC_000009.12:g.108912312C>T
  • NG_008788.1:g.27017G>A
  • NM_001318360.2:c.799G>A
  • NM_001330749.2:c.94G>A
  • NM_003640.5:c.1141G>AMANE SELECT
  • NP_001305289.1:p.Val267Met
  • NP_001317678.1:p.Val32Met
  • NP_003631.2:p.Val381Met
  • LRG_251:g.27017G>A
  • NC_000009.11:g.111674592C>T
  • NM_003640.3:c.1141G>A
Protein change:
V267M
Links:
dbSNP: rs769108524
NCBI 1000 Genomes Browser:
rs769108524
Molecular consequence:
  • NM_001318360.2:c.799G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330749.2:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003640.5:c.1141G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002755580Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 26, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002755580.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.V381M variant (also known as c.1141G>A), located in coding exon 10 of the IKBKAP gene, results from a G to A substitution at nucleotide position 1141. The valine at codon 381 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024