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NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 28, 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:
RCV000675449.9

Allele description [Variation Report for NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)]

NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)

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.472A>G (p.Thr158Ala)
HGVS:
  • NC_000023.11:g.120449054T>C
  • NG_007995.1:g.25296A>G
  • NM_001122606.1:c.472A>G
  • NM_002294.3:c.472A>GMANE SELECT
  • NM_013995.2:c.472A>G
  • NP_001116078.1:p.Thr158Ala
  • NP_002285.1:p.Thr158Ala
  • NP_002285.1:p.Thr158Ala
  • NP_054701.1:p.Thr158Ala
  • LRG_749t1:c.472A>G
  • LRG_749t2:c.472A>G
  • LRG_749t3:c.472A>G
  • LRG_749:g.25296A>G
  • LRG_749p1:p.Thr158Ala
  • LRG_749p2:p.Thr158Ala
  • LRG_749p3:p.Thr158Ala
  • NC_000023.10:g.119582909T>C
  • NM_002294.2:c.472A>G
  • c.472A>G
Protein change:
T158A
Links:
dbSNP: rs138374063
NCBI 1000 Genomes Browser:
rs138374063
Molecular consequence:
  • NM_001122606.1:c.472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002294.3:c.472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013995.2:c.472A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000801131Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Uncertain significance
(Nov 13, 2017) 		unknownclinical testing

SCV001989013GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 28, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801131.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001989013.3

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27532257)

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

Last Updated: Sep 29, 2024