NM_003055.3(SLC18A3):c.956C>G (p.Thr319Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 27, 2021
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:: RCV002962935.9

Allele description [Variation Report for NM_003055.3(SLC18A3):c.956C>G (p.Thr319Arg)]

NM_003055.3(SLC18A3):c.956C>G (p.Thr319Arg)

Genes:

CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_003055.3(SLC18A3):c.956C>G (p.Thr319Arg)

HGVS:

NC_000010.11:g.49611696C>G
NG_011797.1:g.7602C>G
NG_011797.2:g.7603C>G
NG_053144.1:g.6396C>G
NG_119460.1:g.515C>G
NM_003055.3:c.956C>GMANE SELECT
NM_020984.4:c.-69+2497C>G
NP_003046.2:p.Thr319Arg
NC_000010.10:g.50819742C>G
NM_003055.2:c.956C>G

Protein change:

T319R

Molecular consequence:

NM_020984.4:c.-69+2497C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_003055.3:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Mus musculus serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), memb...
Mus musculus serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11, mRNA (cDNA clone MGC:6485 IMAGE:2646766), complete cds
gi|16307528|gb|BC010313.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003573694	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 27, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003573694

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 27, 2021)

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, SCV003573694.2

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

Description

The c.956C>G (p.T319R) alteration is located in exon 1 (coding exon 1) of the SLC18A3 gene. This alteration results from a C to G substitution at nucleotide position 956, causing the threonine (T) at amino acid position 319 to be replaced by an arginine (R). 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: Nov 3, 2024

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