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NM_002294.3(LAMP2):c.834del (p.Ile279fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 4, 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:
RCV000788273.2

Allele description [Variation Report for NM_002294.3(LAMP2):c.834del (p.Ile279fs)]

NM_002294.3(LAMP2):c.834del (p.Ile279fs)

Gene:
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_002294.3(LAMP2):c.834del (p.Ile279fs)
HGVS:
  • NC_000023.11:g.120446336del
  • NG_007995.1:g.28015del
  • NM_001122606.1:c.834del
  • NM_002294.3:c.834delMANE SELECT
  • NM_013995.2:c.834del
  • NP_001116078.1:p.Ile279fs
  • NP_002285.1:p.Ile279fs
  • NP_054701.1:p.Ile279fs
  • LRG_749t2:c.834del
  • LRG_749t3:c.834del
  • LRG_749:g.28015del
  • LRG_749p2:p.Ile279fs
  • LRG_749p3:p.Ile279fs
  • NC_000023.10:g.119580191del
  • NM_001122606.1:c.834delC
Protein change:
I279fs
Links:
dbSNP: rs1602534666
NCBI 1000 Genomes Browser:
rs1602534666
Molecular consequence:
  • NM_001122606.1:c.834del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002294.3:c.834del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013995.2:c.834del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000927325Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Likely pathogenic
(Jul 4, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927325.1

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

Last Updated: May 7, 2024