U.S. flag

An official website of the United States government

NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 15, 2016
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:
RCV000589580.1

Allele description [Variation Report for NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs)]

NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs)

Gene:
SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs)
HGVS:
  • NC_000011.10:g.6390705_6390706insCTGGC
  • NG_011780.1:g.5281_5282insCTGGC
  • NM_000543.5:c.107_108insCTGGCMANE SELECT
  • NM_001007593.3:c.107_108insCTGGC
  • NM_001318087.2:c.107_108insCTGGC
  • NM_001318088.2:c.-855_-854insCTGGC
  • NM_001365135.2:c.107_108insCTGGC
  • NP_000534.3:p.Leu37fs
  • NP_001007594.2:p.Leu37fs
  • NP_001305016.1:p.Leu37fs
  • NP_001352064.1:p.Leu37fs
  • NC_000011.9:g.6411935_6411936insCTGGC
  • NM_000543.4:c.107_108insCTGGC
  • NR_027400.3:n.232_233insCTGGC
  • NR_134502.2:n.232_233insCTGGC
Protein change:
L37fs
Links:
dbSNP: rs1554933813
NCBI 1000 Genomes Browser:
rs1554933813
Molecular consequence:
  • NM_001318088.2:c.-855_-854insCTGGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000543.5:c.107_108insCTGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001007593.3:c.107_108insCTGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318087.2:c.107_108insCTGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365135.2:c.107_108insCTGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027400.3:n.232_233insCTGGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.232_233insCTGGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000697408Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 15, 2016) 		germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Newborn screening for lysosomal storage disorders in hungary.

Wittmann J, Karg E, Turi S, Legnini E, Wittmann G, Giese AK, Lukas J, Gölnitz U, Klingenhäger M, Bodamer O, Mühl A, Rolfs A.

JIMD Rep. 2012;6:117-25. doi: 10.1007/8904_2012_130. Epub 2012 Mar 21.

PubMed [citation]
PMID:
23430949
PMCID:
PMC3565645

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697408.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022