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NM_001807.6(CEL):c.472G>A (p.Val158Met) AND Maturity-onset diabetes of the young type 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 12, 2020
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:
RCV002468535.1

Allele description [Variation Report for NM_001807.6(CEL):c.472G>A (p.Val158Met)]

NM_001807.6(CEL):c.472G>A (p.Val158Met)

Gene:
CEL:carboxyl ester lipase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_001807.6(CEL):c.472G>A (p.Val158Met)
HGVS:
  • NC_000009.12:g.133065171G>A
  • NG_016394.1:g.8194G>A
  • NM_001807.3:c.481G>A
  • NM_001807.6:c.472G>AMANE SELECT
  • NP_001798.3:p.Val158Met
  • NC_000009.11:g.135940558G>A
  • NM_001807.4:c.481G>A
Protein change:
V158M
Molecular consequence:
  • NM_001807.6:c.472G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Maturity-onset diabetes of the young type 8 (MODY8)
Synonyms:
Diabetes and pancreatic exocrine dysfunction; Diabetes-pancreatic exocrine dysfunction syndrome; Diabetes mellitus MODY type 8
Identifiers:
MONDO: MONDO:0012348; MedGen: C1853297; Orphanet: 552; OMIM: 609812

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764545New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Dec 12, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV002764545.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.481G>A (p.Val161Met) variant identified in the CEL gene substitutes a conserved Valine for Methionine at amino acid 161/757(exon 4/11). This variant is found with low frequency in gnomAD(v3.1) (24 heterozygotes, 0 homozygotes; allele frequency: 1.58e-4) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms do not agree on the effect of this variant, as it is predicted both Damaging (SIFT; score:0.001) and Benign (REVEL; score:0.61) to the function of the canonical transcript. This variant is absent from ClinVar and has been reported in an individual with Maturity Onset Diabetes of the Young (MODY) (individual CEL-3), although with unclear clinical significance [PMID:31595705]. Given the lack of compelling evidence for its pathogenicity, the c.481G>A (p.Val161Met) variant identified in the CEL gene is reported as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 18, 2023