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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 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:
RCV002358405.2

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_002294.3: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
  • NM_002294.2:c.1000G>C
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_002294.3:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013995.2:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002650056Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 8, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002650056.2

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

Description

The p.E334Q variant (also known as c.1000G>C), located in coding exon 8 of the LAMP2 gene, results from a G to C substitution at nucleotide position 1000. The glutamic acid at codon 334 is replaced by glutamine, an amino acid with highly similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (4/205486) total alleles studied. The highest observed frequency was 0.026% (2/7667) of Ashkenazi Jewish alleles, including 4 hemizygotes. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 29, 2024