NM_000235.4(LIPA):c.756A>C (p.Ile252=) AND Wolman disease

Clinical significance:Benign (Last evaluated: Dec 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001081963.2

Allele description [Variation Report for NM_000235.4(LIPA):c.756A>C (p.Ile252=)]

NM_000235.4(LIPA):c.756A>C (p.Ile252=)

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.756A>C (p.Ile252=)
HGVS:
  • NC_000010.11:g.89223750T>G
  • NG_008194.1:g.33154A>C
  • NM_000235.4:c.756A>CMANE SELECT
  • NM_001127605.3:c.756A>C
  • NM_001288979.1:c.408A>C
  • NP_000226.2:p.Ile252=
  • NP_001121077.1:p.Ile252=
  • NP_001275908.1:p.Ile136=
  • NC_000010.10:g.90983507T>G
  • NM_000235.3:c.756A>C
Links:
dbSNP: rs145037134
NCBI 1000 Genomes Browser:
rs145037134
Molecular consequence:
  • NM_000235.4:c.756A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127605.3:c.756A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288979.1:c.408A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Wolman disease
Synonyms:
Acid cholesteryl ester hydrolase deficiency, Wolman type; Acid cholesteryl ester hydrolase deficiency, type 2; Acid lipase disease
Identifiers:
MONDO: MONDO:0019148; MedGen: C0043208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001122514Invitaecriteria provided, single submitter
Benign
(Dec 2, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001122514.3

#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: Jun 14, 2021

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