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NM_000236.3(LIPC):c.1024G>A (p.Val342Ile) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 5, 2022
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:
RCV003228622.3

Allele description [Variation Report for NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)]

NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)

Gene:
LIPC:lipase C, hepatic type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.3
Genomic location:
Preferred name:
NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)
HGVS:
  • NC_000015.10:g.58548545G>A
  • NG_011465.2:g.121570G>A
  • NG_131085.1:g.136G>A
  • NM_000236.3:c.1024G>AMANE SELECT
  • NP_000227.2:p.Val342Ile
  • NC_000015.9:g.58840744G>A
Protein change:
V342I
Molecular consequence:
  • NM_000236.3:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Type 2 diabetes mellitus
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
Name:
High density lipoprotein cholesterol level quantitative trait locus 12 (HDLCQ12)
Identifiers:
MedGen: C2675071; OMIM: 612797
Name:
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Synonyms:
LIPC DEFICIENCY; Hepatic lipase deficiency
Identifiers:
MONDO: MONDO:0013533; MedGen: C3151466; OMIM: 614025

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925272New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 5, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV003925272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024