NM_000235.4(LIPA):c.891C>T (p.Ser297=) AND Lysosomal acid lipase deficiency

Clinical significance:Uncertain significance (Last evaluated: Mar 7, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000673075.4

Allele description [Variation Report for NM_000235.4(LIPA):c.891C>T (p.Ser297=)]

NM_000235.4(LIPA):c.891C>T (p.Ser297=)

Gene:
LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
HGVS:
  • NC_000010.11:g.89222514G>A
  • NG_008194.1:g.34390C>T
  • NM_000235.4:c.891C>TMANE SELECT
  • NM_001127605.3:c.891C>T
  • NM_001288979.1:c.543C>T
  • NP_000226.2:p.Ser297=
  • NP_001121077.1:p.Ser297=
  • NP_001275908.1:p.Ser181=
  • NC_000010.10:g.90982271G>A
  • NM_000235.2:c.891C>T
  • NM_000235.3:c.891C>T
Links:
dbSNP: rs145066614
NCBI 1000 Genomes Browser:
rs145066614
Molecular consequence:
  • NM_000235.4:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127605.3:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288979.1:c.543C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Lysosomal acid lipase deficiency
Synonyms:
LAL DEFICIENCY; CHOLESTEROL ESTER HYDROLASE DEFICIENCY
Identifiers:
MONDO: MONDO:0010204; MedGen: C2936797; OMIM: 278000

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000365980Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jan 13, 2018)
germlineclinical testing

Citation Link,

SCV000798243Counsylcriteria provided, single submitter
Uncertain significance
(Mar 7, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Chora JR, Alves AC, Medeiros AM, Mariano C, Lobarinhas G, Guerra A, Mansilha H, Cortez-Pinto H, Bourbon M.

J Clin Lipidol. 2017 Mar - Apr;11(2):477-484.e2. doi: 10.1016/j.jacl.2016.11.002. Epub 2016 Nov 17.

PubMed [citation]
PMID:
28502505

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000365980.3

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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

From Counsyl, SCV000798243.1

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

Last Updated: Aug 17, 2021

Support Center