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NM_002294.3(LAMP2):c.-7C>T AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2018
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:
RCV000780373.1

Allele description [Variation Report for NM_002294.3(LAMP2):c.-7C>T]

NM_002294.3(LAMP2):c.-7C>T

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.-7C>T
HGVS:
  • NC_000023.11:g.120469176G>A
  • NG_007995.1:g.5174C>T
  • NM_001122606.1:c.-7C>T
  • NM_002294.3:c.-7C>TMANE SELECT
  • NM_013995.2:c.-7C>T
  • LRG_749t1:c.-7C>T
  • LRG_749t2:c.-7C>T
  • LRG_749t3:c.-7C>T
  • LRG_749:g.5174C>T
  • NC_000023.10:g.119603031G>A
  • NM_002294.2:c.-7C>T
Links:
dbSNP: rs762305947
NCBI 1000 Genomes Browser:
rs762305947
Molecular consequence:
  • NM_001122606.1:c.-7C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002294.3:c.-7C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_013995.2:c.-7C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000917573Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 22, 2018) 		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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000917573.1

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

Description

Variant summary: The LAMP2 c.-7C>T variant located in the 5' UTR involves the alteration of a non-conserved nucleotide. This variant was found in 2/177283 control chromosomes (gnomAD) at a frequency of 0.0000113, which does not exceed the estimated maximal expected allele frequency of a pathogenic LAMP2 variant (0.0000125). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Oct 13, 2024