U.S. flag

An official website of the United States government

NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 13, 2023
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:
RCV003380830.2

Allele description [Variation Report for NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)]

NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)

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.520C>A (p.Gln174Lys)
HGVS:
  • NC_000023.11:g.120449006G>T
  • NG_007995.1:g.25344C>A
  • NM_001122606.1:c.520C>A
  • NM_002294.3:c.520C>AMANE SELECT
  • NM_013995.2:c.520C>A
  • NP_001116078.1:p.Gln174Lys
  • NP_002285.1:p.Gln174Lys
  • NP_054701.1:p.Gln174Lys
  • LRG_749t1:c.520C>A
  • LRG_749t2:c.520C>A
  • LRG_749t3:c.520C>A
  • LRG_749:g.25344C>A
  • LRG_749p2:p.Gln174Lys
  • LRG_749p3:p.Gln174Lys
  • NC_000023.10:g.119582861G>T
  • NM_002294.2:c.520C>A
Protein change:
Q174K
Links:
dbSNP: rs104894857
NCBI 1000 Genomes Browser:
rs104894857
Molecular consequence:
  • NM_001122606.1:c.520C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002294.3:c.520C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013995.2:c.520C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004097154Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 13, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004097154.2

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

Description

The p.Q174K variant (also known as c.520C>A), located in coding exon 4 of the LAMP2 gene, results from a C to A substitution at nucleotide position 520. The glutamine at codon 174 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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: Sep 29, 2024