NM_000235.4(LIPA):c.254A>G (p.Gln85Arg) AND Lysosomal acid lipase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2019
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:: RCV000857277.3

Allele description [Variation Report for NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)]

NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)

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.254A>G (p.Gln85Arg)

HGVS:

NC_000010.11:g.89228374T>C
NG_008194.1:g.28530A>G
NM_000235.4:c.254A>GMANE SELECT
NM_001127605.3:c.254A>G
NM_001288979.2:c.-95A>G
NP_000226.2:p.Gln85Arg
NP_001121077.1:p.Gln85Arg
NC_000010.10:g.90988131T>C
NC_000010.10:g.90988131T>C

Protein change:

Q85R

Links:

dbSNP: rs1589558414

NCBI 1000 Genomes Browser:

rs1589558414

Molecular consequence:

NM_001288979.2:c.-95A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000235.4:c.254A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127605.3:c.254A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lysosomal acid lipase deficiency
Synonyms:: Acid cholesteryl ester hydrolase deficiency, type 2
Identifiers:: MONDO: MONDO:0800449; MedGen: C2936797; OMIM: PS278000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000999869	Alexion Pharmaceuticals, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 1, 2019)	germline	research	PubMed (3) [See all records that cite these PMIDs] 24792990, 25741868, 31180157

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000999869

Alexion Pharmaceuticals, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 1, 2019)

germline

research

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E.

Atherosclerosis. 2014 Jul;235(1):21-30. doi: 10.1016/j.atherosclerosis.2014.04.003. Epub 2014 Apr 15. Review.

PubMed [citation]

PMID:: 24792990

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (3)

Details of each submission

From Alexion Pharmaceuticals, Inc, SCV000999869.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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