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NM_003640.5(ELP1):c.56G>A (p.Gly19Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2016
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:
RCV000235303.1

Allele description [Variation Report for NM_003640.5(ELP1):c.56G>A (p.Gly19Glu)]

NM_003640.5(ELP1):c.56G>A (p.Gly19Glu)

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.56G>A (p.Gly19Glu)
HGVS:
  • NC_000009.12:g.108931091C>T
  • NG_008788.1:g.8238G>A
  • NM_001318360.2:c.-252-35G>A
  • NM_001330749.2:c.-804G>A
  • NM_003640.5:c.56G>AMANE SELECT
  • NP_003631.2:p.Gly19Glu
  • LRG_251t1:c.56G>A
  • LRG_251:g.8238G>A
  • NC_000009.11:g.111693371C>T
  • NM_003640.3:c.56G>A
Protein change:
G19E
Links:
dbSNP: rs771715592
NCBI 1000 Genomes Browser:
rs771715592
Molecular consequence:
  • NM_001330749.2:c.-804G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318360.2:c.-252-35G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003640.5:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293842GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Jan 30, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293842.10

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

Description

The G19E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G19E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 23, 2022