NM_001807.6(CEL):c.73G>A (p.Ala25Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2023
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:: RCV003178364.2

Allele description [Variation Report for NM_001807.6(CEL):c.73G>A (p.Ala25Thr)]

NM_001807.6(CEL):c.73G>A (p.Ala25Thr)

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.73G>A (p.Ala25Thr)

HGVS:

NC_000009.12:g.133064410G>A
NG_016394.1:g.7433G>A
NM_001807.6:c.73G>AMANE SELECT
NP_001798.3:p.Ala25Thr
NC_000009.11:g.135939797G>A
NM_001807.3:c.82G>A

Protein change:

A25T

Molecular consequence:

NM_001807.6:c.73G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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ATP synthase F0 subunit 6 (mitochondrion) [Ixodes tasmani]
ATP synthase F0 subunit 6 (mitochondrion) [Ixodes tasmani]
gi|1593549263|ref|YP_009560721.1|

Protein
PREDICTED: Rattus norvegicus RNA binding motif protein 12B (Rbm12b), transcript ...
PREDICTED: Rattus norvegicus RNA binding motif protein 12B (Rbm12b), transcript variant X2, mRNA
gi|2678944038|ref|XM_039110940.2|

Nucleotide
RNA-binding protein 12B isoform X1 [Rattus norvegicus]
RNA-binding protein 12B isoform X1 [Rattus norvegicus]
gi|2678944042|ref|XP_063143647.1|

Protein
PREDICTED: Nomascus leucogenys myosin-14 (LOC100589070), transcript variant X1, ...
PREDICTED: Nomascus leucogenys myosin-14 (LOC100589070), transcript variant X1, mRNA
gi|1743142584|ref|XM_030821120.1|

Nucleotide
transmembrane and TPR repeat-containing protein 4 isoform X6 [Apteryx rowi]
transmembrane and TPR repeat-containing protein 4 isoform X6 [Apteryx rowi]
gi|1444492233|ref|XP_025922338.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003865389	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003865389

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 1, 2023)

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, SCV003865389.2

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

Description

The c.82G>A (p.A28T) alteration is located in exon 2 (coding exon 2) of the CEL gene. This alteration results from a G to A substitution at nucleotide position 82, causing the alanine (A) at amino acid position 28 to be replaced by a threonine (T). 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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