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NM_002294.3(LAMP2):c.519A>G (p.Val173=) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 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:
RCV000769550.2

Allele description [Variation Report for NM_002294.3(LAMP2):c.519A>G (p.Val173=)]

NM_002294.3(LAMP2):c.519A>G (p.Val173=)

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.519A>G (p.Val173=)
HGVS:
  • NC_000023.11:g.120449007T>C
  • NG_007995.1:g.25343A>G
  • NM_001122606.1:c.519A>G
  • NM_002294.3:c.519A>GMANE SELECT
  • NM_013995.2:c.519A>G
  • NP_001116078.1:p.Val173=
  • NP_002285.1:p.Val173=
  • NP_002285.1:p.Val173=
  • NP_054701.1:p.Val173=
  • LRG_749t1:c.519A>G
  • LRG_749t2:c.519A>G
  • LRG_749t3:c.519A>G
  • LRG_749:g.25343A>G
  • LRG_749p1:p.Val173=
  • LRG_749p2:p.Val173=
  • LRG_749p3:p.Val173=
  • NC_000023.10:g.119582862T>C
  • NM_002294.2:c.519A>G
Links:
dbSNP: rs1060504543
NCBI 1000 Genomes Browser:
rs1060504543
Molecular consequence:
  • NM_001122606.1:c.519A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002294.3:c.519A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_013995.2:c.519A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000900946CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 23, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900946.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024