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NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Benign (1 submission)
Last evaluated:
May 20, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000030112.1

Allele description [Variation Report for NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]]

NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]

Gene:
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
HGVS:
  • NC_000023.10:g.119603055_119603063del
  • NC_000023.11:g.120469191ACGGCGGCG[1]
  • NG_007995.1:g.5149GTCGCCGCC[1]
  • NM_001122606.1:c.-32GTCGCCGCC[1]
  • NM_002294.3:c.-32GTCGCCGCC[1]MANE SELECT
  • NM_013995.2:c.-32GTCGCCGCC[1]
  • LRG_749t2:c.-32GTCGCCGCC[1]
  • LRG_749t3:c.-32GTCGCCGCC[1]
  • LRG_749:g.5149GTCGCCGCC[1]
  • NC_000023.10:g.119603046ACGGCGGCG[1]
  • NC_000023.10:g.119603055_119603063del
  • NC_000023.10:g.119603055_119603063delACGGCGGCG
  • NM_001122606.1:c.-39_-31delCGCCGCCGT
  • NM_002294.2:c.-23_-15delGTCGCCGCC
  • c.-23_-15delGTCGCCGCC
Links:
dbSNP: rs193922648
NCBI 1000 Genomes Browser:
rs193922648
Molecular consequence:
  • NM_001122606.1:c.-32GTCGCCGCC[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002294.3:c.-32GTCGCCGCC[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_013995.2:c.-32GTCGCCGCC[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000052767Women's Health and Genetics/Laboratory Corporation of America, LabCorp
no assertion criteria provided
Benign
(May 20, 2015) 		germlineclinical testing

Help

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, SCV000052767.2

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

Last Updated: Mar 10, 2024