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NM_000235.4(LIPA):c.846A>G (p.Thr282=) AND Lysosomal acid lipase deficiency

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 2, 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:
RCV000673100.6

Allele description [Variation Report for NM_000235.4(LIPA):c.846A>G (p.Thr282=)]

NM_000235.4(LIPA):c.846A>G (p.Thr282=)

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.846A>G (p.Thr282=)
HGVS:
  • NC_000010.11:g.89222559T>C
  • NG_008194.1:g.34345A>G
  • NM_000235.4:c.846A>GMANE SELECT
  • NM_001127605.3:c.846A>G
  • NM_001288979.2:c.498A>G
  • NP_000226.2:p.Thr282=
  • NP_001121077.1:p.Thr282=
  • NP_001275908.1:p.Thr166=
  • NC_000010.10:g.90982316T>C
  • NM_000235.2:c.846A>G
  • NM_000235.3:c.846A>G
Links:
dbSNP: rs534838107
NCBI 1000 Genomes Browser:
rs534838107
Molecular consequence:
  • NM_000235.4:c.846A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127605.3:c.846A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288979.2:c.498A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Lysosomal acid lipase deficiency
Synonyms:
Acid cholesteryl ester hydrolase deficiency, type 2
Identifiers:
MONDO: MONDO:0800449; MedGen: C5574740; OMIM: PS278000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000798268Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 2, 2018) 		unknownclinical testing

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

Citation Link,

SCV002091333Natera, Inc.
no assertion criteria provided
Likely benign
(Mar 30, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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 Counsyl, SCV000798268.1

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

From Natera, Inc., SCV002091333.1

#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: Sep 29, 2024