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NM_002294.3(LAMP2):c.214G>A (p.Val72Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2017
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:
RCV000608584.4

Allele description [Variation Report for NM_002294.3(LAMP2):c.214G>A (p.Val72Met)]

NM_002294.3(LAMP2):c.214G>A (p.Val72Met)

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.214G>A (p.Val72Met)
HGVS:
  • NC_000023.11:g.120455540C>T
  • NG_007995.1:g.18810G>A
  • NM_001122606.1:c.214G>A
  • NM_002294.3:c.214G>AMANE SELECT
  • NM_013995.2:c.214G>A
  • NP_001116078.1:p.Val72Met
  • NP_002285.1:p.Val72Met
  • NP_002285.1:p.Val72Met
  • NP_054701.1:p.Val72Met
  • LRG_749t1:c.214G>A
  • LRG_749t2:c.214G>A
  • LRG_749t3:c.214G>A
  • LRG_749:g.18810G>A
  • LRG_749p1:p.Val72Met
  • LRG_749p2:p.Val72Met
  • LRG_749p3:p.Val72Met
  • NC_000023.10:g.119589395C>T
  • NM_002294.2:c.214G>A
Protein change:
V72M
Links:
dbSNP: rs778193991
NCBI 1000 Genomes Browser:
rs778193991
Molecular consequence:
  • NM_001122606.1:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002294.3:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013995.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000713211Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 2, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000713211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Val72Met variant in LAMP2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/19131 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; d bSNP rs778193991). Computational prediction tools and conservation analysis do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Val72Met variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Mar 5, 2025