NM_001807.6(CEL):c.957C>A (p.Asp319Glu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 18, 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:: RCV002854298.2

Allele description [Variation Report for NM_001807.6(CEL):c.957C>A (p.Asp319Glu)]

NM_001807.6(CEL):c.957C>A (p.Asp319Glu)

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.957C>A (p.Asp319Glu)

HGVS:

NC_000009.12:g.133068733C>A
NG_016394.1:g.11756C>A
NM_001807.6:c.957C>AMANE SELECT
NP_001798.3:p.Asp319Glu
NC_000009.11:g.135944120C>A
NM_001807.3:c.966C>A

Protein change:

D319E

Molecular consequence:

NM_001807.6:c.957C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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NADH dehydrogenase subunit 1 (mitochondrion) [Ixodes tasmani]
NADH dehydrogenase subunit 1 (mitochondrion) [Ixodes tasmani]
gi|1593549271|ref|YP_009560729.1|

Protein
RNA binding motif protein 12B gene 2 [Xenopus tropicalis]
RNA binding motif protein 12B gene 2 [Xenopus tropicalis]
gi|113931466|ref|NP_001039182.1|

Protein
Moxostoma albidum voucher MX008A cytochrome oxidase subunit 1 (COI) gene, partia...
Moxostoma albidum voucher MX008A cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|189165260|gnl|uoguelph|MEFM227-0 EU751969.1|

Nucleotide
peptide chain release factor 2 [Vibrio parahaemolyticus]
peptide chain release factor 2 [Vibrio parahaemolyticus]
gi|1065590283|gb|OEA19145.1||gnl|WG U|BBM54_03040

Protein
s41-Pseudomonas sp.
s41-Pseudomonas sp.

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003619164	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003619164

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 18, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003619164.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.966C>A (p.D322E) alteration is located in exon 8 (coding exon 8) of the CEL gene. This alteration results from a C to A substitution at nucleotide position 966, causing the aspartic acid (D) at amino acid position 322 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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