NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000522587.1

Allele description [Variation Report for NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)]

NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)

Gene:
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)
HGVS:
  • NC_000023.11:g.120441823C>G
  • NG_007995.1:g.32527G>C
  • NM_001122606.1:c.1000G>C
  • NM_002294.2:c.1000G>C
  • NM_002294.3:c.1000G>CMANE SELECT
  • NM_013995.2:c.1000G>C
  • NP_001116078.1:p.Glu334Gln
  • NP_002285.1:p.Glu334Gln
  • NP_002285.1:p.Glu334Gln
  • NP_054701.1:p.Glu334Gln
  • LRG_749t1:c.1000G>C
  • LRG_749t2:c.1000G>C
  • LRG_749t3:c.1000G>C
  • LRG_749:g.32527G>C
  • LRG_749p1:p.Glu334Gln
  • LRG_749p2:p.Glu334Gln
  • LRG_749p3:p.Glu334Gln
  • NC_000023.10:g.119575678C>G
Protein change:
E334Q
Links:
dbSNP: rs766962315
NCBI 1000 Genomes Browser:
rs766962315
Molecular consequence:
  • NM_001122606.1:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002294.2:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002294.3:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013995.2:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000617012GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 12, 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, SCV000617012.2

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

Description

A variant of uncertain significance has been identified in the LAMP2 gene. The E334Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. The E334Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In addition, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014). Furthermore, although this variant was previously identified in one other unrelated individual referred for cardiomyopathy genetic testing at GeneDx, family studies were not performed to discern whether this variant co-segregates with disease.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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

Last Updated: Nov 27, 2021

Support Center